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Archive for the ‘Gene Therapy Doctor’ Category

Patient Turned Advocate Raises Awareness for the Lung Cancer Community –

Patient advocate and lung cancer survivor Nancy Cohen discusses living with stage 4 lung cancer.

Cohen served as keynote speaker during theCUREPatient-Focused Sessions at theNew York Lung Cancers Symposiumon Nov. 9, addressing a crowd of more than 80 patients with lung cancer, to help show that they can continue to live life as they wish and gather support from within the patient community.

In an interview with CURE, Cohen discussed the journey to becoming a patient advocate and how being involved with support groups gives her strength.

CURE: Can you tell us about your cancer journey?Cohen: My diagnosis was actually a little bit unusual in the sense that the story that many people tell is of a persistent cough or exhaustion or something, and sort of going doctor to doctor and taking a long time to find an answer. Mine was very fast. I felt a pain under my arm for a couple of days, a sharp pain. (I) took some Advil because I didn't know what else to do. Woke up on a Wednesday morning and it hurt to take a breath, which I knew was not a great sign and texted a close friend who's a pulmonologist. His response was, Nancy, you never complain. I'm sending you for a chest X-ray. And from that point, it was literally 48 hours from that text. I had a needle biopsy Thursday morning and results Friday.

I think it was the fact that the pulmonologist is a good friend of mine. I'm pretty sure that he called in every favor he's ever been owed by anyone in any lab to get everything happening that quickly. I think that was sort of why it happened so fast. And then obviously meeting with doctors and PET scans and brain scans and all of those attendant tests. That led to the discovery of the EGFR mutation that I had, and to the staging of the disease, and like so many others, it was not caught early, because there's no screening and I had zero risk factors for the disease. There would have been no reason currently to get screened, although I wish there had been. The disease had already spread to my brain and lymph nodes.

How did you cope with the new normal of having cancer?It took probably a good month or so to settle on a first-line treatment by the time we had all of these tests and everything else, so that month was definitely hectic. And then I was lucky lucky seems like a strange word to use but because I have this mutation, I was able to start on a targeted gene therapy on osimertinib (Tagrisso). It's an oral pill that I take every day and the side effects were really manageable. I would say (finding a new normal) was a gradual process for me and my family.

Did you lean on support groups or professionals to help you after diagnosis?Right from the beginning, I had a friend who had been diagnosed with lung cancer about two years before I had, and she was the one who made sure that I was getting the blood test that led to finding the genetic mutation. My doctor was already planning to do it, but she gave me the questions to ask to make sure that I was getting that. Because unfortunately, in many parts of our country, where you're diagnosed makes a big difference. This genetic profiling is not happening everywhere, and it is so crucial to get the right therapy for the specific mutation of the lung cancer.

When I started the TKI, I experienced side effects that I could go search in this Facebook group and see that I wasn't alone. I think the other thing that really is important is managing the mental health aspect of it. I started working with a therapist who specializes in oncology patients, and I think, we can talk about the stigma of lung cancer and the stigma of mental health and sort of making sure that neither of those is present because I think going through this is hard enough.

How did stigma affect you?When I was diagnosed and telling people other than my parents, literally every person I told the first question was, Did you smoke? I didn't. But really, why should that matter? Many years ago, I had a form of skin cancer. It was melanoma and (I) took it off and I'm fine. But you get melanoma, and no one says to you, Did you sit in the sun? Did you use baby oil? With that sort of a tone of voice that implies that you brought this on yourself.

I (recently) heard a statistic that 60% of patients with lung cancer are nonsmokers. So yes, smoking certainly is a contributing factor to lung cancer, but so are many other things. One of the issues of the stigma is the fact that it has led to, or because of the stigma, lung cancer receives so little funding and so little attention compared to how deadly it is.

How did you become a patient advocate?It took me a while before I was really ready to jump in. Shortly after I was diagnosed, the New York chapter of the American Lung Association sponsored a walk that I participated in and raised a lot of money, so they asked me to speak. That really was my first step into advocacy.

At the time, I was stable in my disease and my youngest child was graduating from high school and I was finishing up a big volunteer position, so it felt like a good time in my life to really jump into the advocacy waters more and do that with more purpose. And the summer had some health challenges in terms of my health and my treatments, so this fall has been really where I feel like I have stepped up.

I feel good now and I want to show people that this is what stage 4 lung cancer can look like. I hear from a lot of people wow because I think they're expecting me to look different than how I do. Being able to use my voice, raise money, raise awareness and be a resource for people who are newly diagnosed is important. I was really lucky to have people who helped me when I was in that position, and I feel lucky to be able to help those who are coming to me.

How can other patients who want to get involved in advocacy get started?There are many great organizations. American Lung Association is certainly one. There are events and walks, and other great opportunities for people to get involved. For example, if you're a part of a Facebook community and put it out there, Hey, I live in Chicago and I'd like to get more involved, is anyone out there?

Sadly, I think there are patients with lung cancer everywhere and opportunity for advocacy everywhere from the microlocal level. Live in a small town and have a small-town paper? There can be an editorial in that paper. And you can advocate to local elected officials at the state level for more funding and awareness.

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Patient Turned Advocate Raises Awareness for the Lung Cancer Community -

Are we any closer to a cure? – Deccan Herald

If any phenomenon has played an unsung role in medical discoveries, it is serendipity. One such chance occurrence has now buoyed the hope of scientists struggling for years to find the holy grail of HIV research a possible cure.

It is heartening to note that worldwide, treatment and management of HIV has improved dramatically over the past two decades and people living with the disease are able to live longer and manage the disease with one pill as opposed to a cocktail of drugs at one point. However, HIV remains a global burden.

Stigma and ostracismcontinue to haunt sufferers, and in poorer countries, especially in Asia and Africa, the epidemic has remained the cruel adversary it always was.

Consider these numbers. According to UNAIDS 2018 figures, there are approximately 38 million people living withthe disease of which 36.2 million are adults and 1.7 million children. In 2018 alone, an estimated 1.7 million individuals were newly infected with the disease and the virus killed around a million people.

But first, the good news

However, there is considerable good news too. The number of Aids-related deaths has seen a huge drop of nearly 50 per cent from 2005 to 2017 worldwide. In India too, there has been a similar decrease with a 56 per cent decrease in deaths from 2010 to 2017. The number of new HIV infections in India also reduced from 1,20,000 to 88,000 in the same period.

This number crunching is important because it not only reveals the extent to which global HIV/Aids awareness campaigns have succeeded but also affirms the greatly improved efficacy of the Anti-Retroviral Treatment (ART).

In fact, so efficient is the treatment now that opinion is divided in the medical community about whether the research ought to focus on finding a cure or if the same money could be better utilised by making ART accessible to more people.

When I treated my first HIV patient way back in 1989, all we talked about was suffering and dying. Today, the atmosphere in my clinic is so positive some of my HIV patients have lived longer than those suffering from other chronic diseases like diabetes and hypertension, says Dr K S Satish, senior consultant pulmonologist at the Fortis Hospitals, Bangalore, who has had 30 years of experience in the field of HIV medicine and has been part of several clinical trials.

No longer a death sentence but...

Having said that, the doctor cautions that though HIV has ceased to be a death sentence as it were, when medications are not taken or when people do not have constant access to the pill, the risk of the virus rapidly taking over the infected body is real and alive.

As Consultant Physician Dr Shylaja Shyamsundar, who has long been treating HIV-infected patients at BGS Gleneagles Global Hospital, Bangalore, says,unlike other viruses, HIV-infected cells can hide and be virtually invisible to the bodys immune system and treatment therapies. Stop the pill and they come out of hiding and begin multiplying in billions. Not only that, they also turn mutant which is why complete compliance to the treatment is critical.

What ART does, explain the doctors, is suppress the multiplying of the virus; in other words, it keeps the devil under checkbut cannot (and does not)eliminate it.

It is precisely because ART cannotkill the virusthat eminent researchers like Prof John Frater of the University of Oxford are advocating for not takingthe hunt for a cure off the HIV agenda.

And with the unexpected discovery of a possible path to a cure, a surcharge of hope has run through the HIV/Aids research community, struggling for years to find a breakthrough.

What happened with the London patient?

Breaking down the complex procedures that led up to this discovery, Dr Satish explains how an infected person in the UK, identified only as the London patient was declared cured a few months earlier this year. This London Patient was diagnosed with HIV in 2003 and in 2012, it was discovered he had advanced Hodgkin lymphoma, the cancer of the immune system.

The only way to treat him was through intense chemotherapy and a bone marrow transplant containing stem cells to rebuild his immune system. Doctors selected a donor with a rare genetic mutation that granted him resistance to HIV and thus the London patients immune system was rebuilt with HIV resistant cells.

A shift in focus

A decade earlier, exactly this procedure had been applied on another patient Timothy Ray Brown and he is today free of HIV. Curiously enough, researchers had failed many times to replicate the procedure on others till they finallyfound success with the London patient. (This is also why they are still to completely understand what exactly workedthis time around.)

Dr Shylaja adds that in March this year, doctors who treated the London patient announced that it has been 18 months since the HIV virus has been undetectable in his body and thus he could be considered cured.

In fact, withthis unexpected success, the focus of the research has shifted subtly to these aforementioned hiding cells.Technically known as latently-infected cells, these are the ones researchers are now looking to destroy to findthe all-elusive cure.While some researchers are using the shock and kill approach wherein they are trying to bring these hiding cells out in the open so that they can be eliminated, others are looking for ways to destroy them while they are in hiding itself.

Gene therapy to the rescue?

The exciting part is of course how they are planning to conduct this guerilla warfare through gene therapy and gene editing the sexiest areas of medical research today.

Evidently, as far as a cure for HIV/Aids is concerned, it is hope that ought to be garnished with a dose of realism. As some researchers put it, with the new successes, they have traversed a journey from mere aspiration to solid feasibility. And that itself has beena long and hard road.

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Are we any closer to a cure? - Deccan Herald

Rheumatoid Arthritis Will Change Your Life. It Doesn’t Have to Ruin It. –

When I was a little girl, I had high-flying dreams and they had very little to do with my juvenile arthritis, a childhood illness similar to rheumatoid arthritis (RA). First, I wanted to be a ballerina and practiced dance moves on my parents' Persian rug. Then I watched Jacques Cousteau and his crew of marine biologists diving in waters all over the world and scuttled the dancing dream in favor of serving on his ship, the Calypso, and spending much of my life under water. But at age 16, I went home after a two-year hospital stay in a power wheelchair, trailing recommendations from my then-medical team to lower my expectations of life to those resembling a turnip's. Because of the disease, y'know.

It would be easy to dismiss this as a function of attitudes in a land and time far away from now. But these perceptions persist, if not in others, then certainly in ourselves. Its a strange thing, this shift in assumption and expectation. The minute you get a diagnosis of chronic illness, its as if the rug is pulled out from under you. Your future, which had just shone with possibility, now seems dull, hopeless, and framed in less-than.

Do you really have to give it all up and accept a life of sitting on the sidelines? No. Not by a long shot. The key is to adapt and change your approach. But more on that in a bit. First, lets take a look at the obstacles.

I've lived with RA for more than half a century and have learned that the only predictable thing about this condition is that you never know what it'll do next. Sometimes, you're lucky and find a medication that works, suppressing the symptoms so you can get back to your life. At other times, its all you can do to get dressed in the morning. And, of course, all the stages in between.

Fifty years ago, an American psychologist by the name of Martin Seligman did a study that led to a classic theory of depression. He divided dogs into two groups. Both would receive shocks, but one group of dogs would be able to escape, the other not. The dogs that had no control over the situation curled up in a ball, whimpering. Seligman developed a theory called learned helplessness, stating that when people have no agency (that is, no control), they are more likely to develop depression.

When you have no ability to predict how your RA will feel in the morningand therefore what you will be able to doyou can feel helpless. If youre feeling that kind of helplessness for weeks or months, it spreads into other areas of your life, making you feel depressed. It may even be accompanied by its bratty cousin, "Feel Like Giving Up." And that's OK. Because RA affects every part of your life and it's hard to re-learn how to be you. There's nothing wrong with having a moment (or 10) of intense frustration. But what's really important is to make sure it doesn't stick around.

So much of living with RA is about kicking that cousin out of your psyche. Again, your doctor can help, as can therapy, family and friends, and a community of others like you. Having support will help you fight back and find other ways of taking up the reins of your life.

The great thing about life is that there is no one way to do anything. Whether it's opening a jar, having a family, or building your own business, there are ways around that big boulder called RA in the middle of your path. These tips can help:

Talk to your doctor. Your rheumatologist is one of the most important members on your team. If your RA is getting in the way of you creating a life, call them. You might need to adjust your treatment so you can start the journey back to living first, with RA just muttering in the background. Many people also include diet, exercise, supplements, and alternative treatments in how they approach living with RA.

Give yourself extra time to achieve your goals. Maybe your RA diagnosis won't require a complete change in direction for your life. You might be able to stay on your current career path or even keep training for that big race you've been wanting to tackle, but it's probably going to take a little extra time to get there. Getting the right treatment working for you can take time, and flares don't respect your "to-do" list.

Don't expect to follow "normal" timelines when it comes to working toward big goalsRA is bound to get in the way. When it comes to dreams, pursuing them is what matters, not how you go about it. You are free to create your own path, one that respects and accommodates your RA. For instance, I used to work as a policy analyst, frequently working from home four days a week on research and writing tasks. This enabled me to work much more effectively, with fewer sick days.

When RA brings physical limitations, use your mental muscle instead. I will forever be grateful to my parents for the way they dealt with the lost teenager who came home from the hospital. They told me that although my body might not work very well, there was nothing wrong with my mind and they expected me to use it. This meant working hard in school so I could get to college. By then, I had realized the importance of focusing on what I was able to do (and not just because I couldn't swim, so working with Cousteau was a wash).

Finding alternate routes to getting where I wanted to go eventually became a bit of a hobby and by now, I can almost always find a way around an obstacle. Remember that although your condition might get in the way of you becoming a trapeze artist, you can absolutely find another way to be in the circus.

Go easy on yourself, but not too easy. Frustration about struggling with RA might get misdirected toward yourself. Try not to be angry at yourself or your body. It'll get you nowhere, except derailed, and it isnt something you would tolerate for anyone else. Be kind and understanding to yourself.

Human beings have a gift of adaptation, being able to live in almost any climate, under any conditions, and changing their approach to survive. Use that gift to create your life. Yes, with RA, but a life in which you tear down limits of low expectations.

Following your dreams is a process, sometimes a long one, with side tracks and pauses, and often infuriatingly so. But persevering, accommodating your own needs to move slower, to take pauses, but then reassessing and getting back to your path is possible. The only way to live with RA is to become as stubborn as a goat and refuse to stay down. You learn to withstand long periods of having to put your dream (and your life) on hold while you deal with your condition and its nonsense. During those times of flares and pain, you hone a single-minded focus by getting through each day. When it is over, when you are better and get your life back, you use that focus to pick up your dream and work on it some more.

After many years of attending university, with many challenges, I graduated with my masters degree in social work. After immigrating to Canada from Denmark, and with the offer of a government job in human rights, I thought of those doctors who'd had zero expectations of the girl with a chronic illness and disability. In that moment, I wanted very much to write them a letter, telling them how their assumptions of my inability had had the exact opposite effect: They had only spurred me on.

In my family, that's called the "Show the Bastards" gene. I'll bet you have one, too.

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Rheumatoid Arthritis Will Change Your Life. It Doesn't Have to Ruin It. -

San Antonio woman, a singer and dancer with Taylor Swift, gives back to communitys performing arts – San Antonio Express-News

Inside a small dance studio on the third floor of a little building tucked next to the Coates Theatre at University of Incarnate Word, about 15 dancers huddled together Saturday afternoon after Thanksgiving for an advanced workshop led by Eliotte Woodford.

The girls could already pirouette like professionals. Their graceful yet strong jumps looked like they would break through the mirror in front of them.

But Woodford, 31, urged them to go bigger.

Imagine youre on a big stage, super big, like a stadium and 100,000 people are watching you, Woodford said. Imagine theyre in the last seat in the stadium. Youre this big to them, she said while squeezing her fingers together as if she picked up an ant.

The San Antonio native knows from experience how to perform for that fan in the nosebleed section of the worlds biggest stadiums. Eliotte Nicole, as she goes by in the entertainment world, has performed before 100,000 people in sold out concerts all over the world.

Woodfords rsum includes a long list of stars she has performed with including Cher, Pitbull and Meghan Trainor. But most notably, Woodford has sang and danced backup to super star Taylor Swift for the singers last three world stadium tours: Red, 1989 and Reputation. Woodford is currently promoting Swifts latest album, Lover, and performed with Swift on the American Music Awards stage in Los Angeles last Sunday, where Swift was awarded Artist of the Decade.

But before all of that, Woodford sang and danced at San Antonios Reagan High School, in the North East Independent School District, from where she graduated in 2006.

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You know technically you danced for me first, Woodfords longtime friend, Amanda Jeffries sometimes tells Woodford, who gets a kick out of it. Its true, Woodford says. She was in Jeffries performance at the high schools annual, much anticipated Pop Show.

Woodford got the singing gene from her mother, Juli Henderson, who owns and operates her own private voice studio, JH Voice Studio. But her venture into dancing was a fluke, Henderson said.

Woodford was a tomboy and an athlete while was attending Bush Middle School and dreamed of swimming in the Olympics. But an injury sidelined her, and people around her suggested she take up dancing as movement therapy. She at first rejected the notion of a girly girl activity, but later decided to give it a try. It was the beginning of what would be a years-long conversation about the direction of her life.

In high school, she participated in Charmers Pep Squad, Silver Stars Drill and the Diamond Dancers teams. She also sang in the choir and twice made the coveted Texas All-State Choir. It was with the choir that she first traveled to New York and attended Broadway shows that left a mark on her.

I was just like Holy moly this is awesome just seeing the magic of New York, Woodford said.

All the while, she was taking advanced-placement classes and was inducted to the National Honor Society.

Her choir teacher, Jo Scurlock-Dillard, was amazed by Woodfords concentration. In faculty group meetings, Woodfords teachers would marvel at how much Woodford exceeded in.

I would go to her counselor and say, I dont think she ever sleeps, Scurlock-Dillard recalled.

Though she was talented in performing arts, Scurlock-Dillard thought Woodford would go on to become a doctor, like her father.

Woodford did, too. She went to Washington University in St. Louis because it is known as a good school for pre-medicine students. She started studying dance and biology, but she had a nagging feeling that a medical career was not what she was supposed to do with her life. She changed her majors to dance and marketing, with it in the back of her mind that she might go into the entertainment business. She recorded and toured with an a capella ensemble and danced for a professional dance company.

I was slowly falling in love with this idea of performing. I dont think I was really able to admit it for real until I was maybe in college, in my freshman or sophomore year, Woodford said.

Her dream of performing was solidified the summer before her junior year in college when she interned at the Broadway Dance Center in New York. She said she went hoping to discover how she stacked up against top tier performers. She finished the summer signed with an agent.

I was like, Ok, were going to do this, Woodford said. She graduated with her bachelors degree in 2010 and persuaded her parents to let her go to L.A. in pursuit of a different career.

On Reagan marching band, dancers stop by 'Today Show' while in NYC for Macy's Thanksgiving Day Parade

There, she worked the early morning shift at a Starbucks which allowed her to go to auditions in the afternoons and work as a bartender in the evenings until she regularly booked performing gigs.

Back in the San Antonio studio Saturday, Woodford told the girls to pretend a camera was inches from their face.

This is what I want to see. I want to see your personality. Its your own show, she said.

Your personality is what will set you apart from the hundreds of other girls in the audition room who have the same skill set, Woodford told her students. Casting directors will observe how they engage one another before they ever begin to perform, she said.

Watching her daughter never gets old, said Henderson who stood against a side wall in the studio. Woodfords parents have traveled the world following their daughter, like groupies, Henderson said with a laugh.

The first time Woodford returned home for a performance was in 2013 during Swifts Red tour. Coincidentally, it was the last of Swifts tours to travel to San Antonio.

The show coincided with the San Antonio Spurs playoff run against the Miami Heat. Still a devout Spurs fan, Woodford paraded the stage wearing a Tim Duncan jersey over her costume for the final bow.

No matter where Woodford goes, shes a San Antonian at heart. A Lyft driver recently shared that his daughter was contemplating a move to San Antonio.

Its the best city, Woodford recalled telling him.

It is where Woodford married her husband, Ryan Woodford. Swift flew in to attend the wedding at Trinity Universitys Parker Chapel and the reception at the Pearl Stable. It was a no-brainer, Woodford said, to marry in her hometown.

And she always tries to give back to her community. Last year, during Swifts Reputation tour, Woodford took a detour between concerts in Houston and Arlington to visit her alma mater and talk to students at Reagan High School. Her message that lessons learned in dance and choir are true across career paths inspired students, said Jeffries, who is now an assistant choir director there.

The workshop on Saturday benefited the San Antonio Ballet School and Youth Ballets outreach program that teaches kids in South San Antonio and San Antonio independent school districts.

Woodford credits San Antonio in part for her success. Southern hospitality that Texas is known for influenced her personality and her motto: Work hard and be kind.

If you work hard and just be nice to people, youll be OK, she said. Youll make it.

Krista Torralva covers several school districts and public universities in the San Antonio and Bexar County area. Read her on our free site,, and on our subscriber site, | | Twitter: @KMTorralva

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San Antonio woman, a singer and dancer with Taylor Swift, gives back to communitys performing arts - San Antonio Express-News

This Mom Is Buying Mutant Mice From China To Find A Cure For Her Sons Rare Genetic Disease – BuzzFeed News

When Amber Freed first told doctors her baby boy wasnt able to move his hands, they said that wasnt possible.

Freed had given birth to twins in March 2017. While her baby girl, Riley, squirmed and babbled and crawled through the first year of her life, her fraternal twin, Maxwell, was different. He didnt crawl or babble like Riley did. I would fill out their baby books each month, and Riley had met all of these milestones. Maxwell didnt reach one, she said. Most alarmingly, however, Freed noticed that he never moved his hands.

She knew the news was going to be bad when they sent her to the sad room at the hospital, a featureless conference space filled with grim-faced doctors, to hear the diagnosis.

You take your baby to the doctor and you say, He cant move his hands. And they look at you and they say, Of course he can, said Freed.

Then they look for themselves, and you can see from the look on their faces that they have never seen anything like this.

On June 14, 2018, at the Children's Hospital Colorado in Denver, Maxwell was diagnosed with a genetic disease called SLC6A1. The diagnosis explained why the infant hadnt moved his hands or learned how to speak for the first year of his life, while Riley was thriving. But it didnt explain much else: All the doctors who diagnosed Maxwell knew about the genetic disease came from a single five-page study published in 2014, the year of its discovery. It was too rare to even have a name, she was told, so the doctors just called it by the name of the affected gene: SLC6A1.

Now her 2-year-old son is at the center of a multimillion-dollar race against time, one thats come to include genetics researchers whom Freed personally recruited, paid for by $1 million that Freed and her husband, Mark, have raised themselves. At the center of their research will be specially crafted mutant mice that Freed paid scientists in China to genetically alter to have the same disease as Maxwell. The four mice are scheduled to arrive stateside next week, but Freed said shes prepared to smuggle them into the US disguised as pets if there are any problems.

In total, Amber and Mark will need to raise as much as $7 million to test a genetic treatment for their child. And unless they can find and fund a cure, SLC6A1 will condemn Maxwell to severe epileptic seizures, most likely starting before he turns 3. The seizures may trigger developmental disabilities for a lifetime, often accompanied by aggressive behavior, hand flapping, and difficulty speaking.

And the Freeds will have to do it largely alone there are only an estimated 100 other people diagnosed with SLC6A1 in the world. This is the rarest of the rare diseases, pediatric geneticist Austin Larson of the Children's Hospital Colorado told BuzzFeed News.

SLC6A1 is just one of thousands of untreatable rare diseases, and the perilous path it has set up for Freed, half science quarterback and half research fundraiser, is one that few parents can follow. My dream is to create a playbook of how I did this for those that come after me, said Freed. I never want there to be another family that has suffered like this.

You can think of SLC6A1 as a vacuum cleaner in the brain, genetic counselor Katherine Helbig of the Childrens Hospital of Philadelphia, told BuzzFeed News. Helbig will speak at the first conference on the gene at the American Epilepsy Society meeting in Baltimore on Dec. 5, an effort organized by Freed.

The protein made by the gene acts as a stop sign to message-carrying chemicals in the brain, halting them by vacuuming them up once they reach their destination brain cell, Helbig explained.

When one of the two copies of the SLC6A1 gene in every brain cell is damaged, like in Maxwells case, too little of its protein is available to perform its vacuuming duties, leading to miscommunication between cells, developmental disorders, autism-like symptoms, and, often, severe epileptic seizures.

Maxwell is about the age when epileptic seizures typically start in kids with the genetic disease, said Helbig, adding, There probably are many more children out there who have it, but they just havent had the right test to find it. At least 100 similar genetic defects cause similar kinds of epilepsy, afflicting about 1 in 2,000 kids, she said.

I was the one who presented this diagnosis to Amber, said Larson of the Children's Hospital Colorado. There was no medicine or diet or any other treatment for SLC6A1. It wasnt an easy conversation. Most of the time when we present a diagnosis for a genetic condition, there is not a specific treatment available.

At that moment, it was just vividly clear that the only option was for me to create our own miracle, said Freed. Nobody else was going to help.

Half the battle with a rare genetic disease is getting researchers interested, said Helbig.

At that moment, it was just vividly clear that the only option was for me to create our own miracle. Nobody else was going to help.

So that is what Freed set out to do. She quit her job as a financial analyst and started making phone calls to scientists, calling 300 labs in the first three months. For those who didnt respond, she sent them snacks via Uber Eats.

Her search, and a rapid-fire education on genetic diseases, led her to conclude the best hope for helping Maxwell was an experimental technique called gene therapy.

All the roads zeroed in on one scientist: Steven Gray of the University of Texas Southwestern Medical Center in Dallas. In 2018, a team headed by Gray reported the first human experiments of gene transfer by spinal injection, conducted in 5 to 10 children with mutations in a gene called GAN that causes swelling in brain cells.

The GAN gene transfer in that experiment, first tested in mice, attached a corrected version of the damaged gene to a harmless virus. Viruses reproduce by infecting cells and hijacking their DNA machinery to reproduce their own genes, making more viruses. The gene therapy virus in turn leaves behind a corrected gene in the DNA of cells they infect. Injected into the spinal cord, Grays virus can travel straight to the brain, leaving behind the corrected gene after the virus has run its course.

I gave him my 30-second equity analyst pitch. I told him why Maxwell was a good patient, that we would raise $4 million to $7 million, and quarterback every step of the research, she said. And it worked. He agreed to make it a priority if we could raise the money.

The SLC6A1 researchers with the Freeds at a science meeting. From left: Terry Jo Bichell, Frances Shaffo, Amber Freed, Katty Kang, and Mark Freed.

Less than a month after meeting Gray, Freed contacted a lab at Tongji University in Shanghai that was also researching SLC6A1. The lab agreed to develop a mouse with Maxwells specific mutation for less than $50,000, using a gene modification technology called CRISPR that has revolutionized genetic engineering in the lab. CRISPR mice are much more expensive in the US, and this lab had experience with the gene, said Freed.

By July of this year, an experiment with a gene therapy virus that corrects SLC6A1 was tested on normal lab mice, which showed no sign of a toxic response, an encouraging sign. And by September, a line of CRISPR mice with Maxwells exact genetic mutation had been created at Tongji University.

It is the literal mouse version of him, said Freed. Testing a therapy in this mouse is as close as science can get to testing in my son directly.

To pay for all this, Maxwells family started fundraising last November and organized the first medical symposium on SLC6A1 in New Orleans that same month. They opened a GoFundMe account, which has raised $600,000, and held 35 fundraisers, which raised an additional $400,000 by October. In one charity competition, Larson from the Colorado Childrens Hospital, who diagnosed Maxwell, personally helped her raise $75,000.

It is the literal mouse version of him. Testing a therapy in this mouse is as close as science can get to testing in my son directly.

That money is helping to pay for the next step getting the CRISPR mice to Grays lab to test the SLC6A1-correcting virus on them. But its not as simple as putting the mice in a box and shipping them by mail. The mice will be transferred through a lab at Vanderbilt University headed by Katty Kang, an expert on the neurotransmitter disrupted by Maxwells mutation.

Amber is helping us to advance science, and everyone is making this a priority because of the young lives at stake not just Maxwell, but other children this could help, Kang told BuzzFeed News.

Once the four mice arrive, they will spend several weeks in quarantine, be tested to make sure they have Maxwells specific point mutation in the SLC6A1 gene, and breed with normal lab mice to produce generations of mixed-inheritance mice to serve as controls in future experiments. The mutant mice will be closely monitored before they head to UT Southwestern to make sure that they demonstrate the same problems and genetics as human patients with SLC6A1 and can therefore be used in any future clinical trials of gene therapy.

Right now at UT Southwestern, results from a safety test of the gene therapy virus conducted by Grays lab on young, normal lab mice is awaiting publication. If that works out, once the Chinese mice are sent over, they will also receive the gene-correcting virus. His team will see if their symptoms improve and to what extent their brain cells accept the corrected gene.

Maxwell's brain cells seen through a microscope (left), and a sample of his cells in a petri dish.

And then, Freed just needs another $5.5 million. Half a million dollars will go to test the virus in a second SLC6A1 animal model, likely a rat, as another safety step. Two million dollars will go toward creating more of the gene-correcting virus for a human safety study if that proves to be safe. And finally, if all that works out, $3 million will be needed to conduct the experiment on Maxwell and other children next year, following the path of the GAN clinical trial led by Gray.

Its a really horrible realization that the only thing standing in the way of a cure for your 2-year-old is money, said Freed.

Freed acknowledges that she has only been able to pursue a cure for Maxwell because her family has the resources to do so which she would never have had growing up in small towns in Texas, Montana, and Colorado in a poor family affected by alcoholism. I grew up visiting my parents in rehab and knew what to say to put a family member on a 72-hour psychiatric hold by age 12, she said. She dug herself out to build a career in finance, and hoped her kids would never have to experience the struggles she did growing up.

Even so, the fight hasnt been easy on them or on Maxwells sister, Riley.

Freed worries her daughter is growing up in doctors' waiting rooms, waiting on treatments for her brother to end. Maxwells disease has progressed, causing him to constantly clench his fingers, and sometimes pull his sisters hair. His 3-year-old sister will gently remind him, Soft hands, Maxie.

Families like the Freeds are at the forefront of efforts to turn diagnoses of rare genetic ailments, which often used to be the stopping point for medicine, into treatments. A similar case saw the family of a 3-year-old girl, Mila Makovec, raise $3 million for gene therapy to cure her Batten disease, a deadly genetic brain disease that affects 2 to 4 of every 100,000 children born in the US.

In a New England Journal of Medicine editorial on that case published in October, FDA officials questioned how high the agency should set the safety bar for such treatments, meant for severe diseases affecting so few people. In these cases, parents are often collaborators in developing treatments, and might not want to stop efforts that come with high risks. Even in rapidly progressing, fatal illnesses, precipitating severe complications or death is not acceptable, so what is the minimum assurance of safety that is needed? wrote senior FDA officials Janet Woodcock and Peter Marks.

This is way beyond what anyone expects of families.

Finally, Woodcock and Marks wrote, finding sustainable funding for such interventions may prove challenging, because the cost of production can be quite substantial, particularly for gene therapies.

In our era of financial inequality, the specter of wealthy parents buying custom genetic treatments for their childrens ailments while other parents desperately resort to GoFundMe accounts, or else do nothing looms as a possibility.

This is way beyond what anyone expects of families, said Larson. The pathway has been opened up by the brave new world of improved genetic diagnoses, and the coming of age of rapid genetic engineering tools like CRISPR.

But only 20 years ago, an experimental gene therapy that relied on a harmless virus killed an 18-year-old volunteer, Jesse Gelsinger, in a research misconduct case that brought gene therapy to a standstill. Now more than 2,500 gene therapy clinical trials have been conducted, and more than 370 are underway. The human genome was not sequenced until 2000; today, mapping an entire human gene map costs around $700. In this new era, customized treatments for rare genetic diseases like Maxwells are suddenly possible.

What I hope is that we are paving the way for other parents to help their children, said Freed.

Families of children with rare genetic diseases are also working together to make treatments like the one Freed is spearheading possible, said Larson.

They support each other and work together, he said. The best example might be the families of children with cystic fibrosis, who through the Cystic Fibrosis Foundation and the discovery of the gene responsible for the disease in 1989 have pushed for the discovery of new drug treatments. In October, the FDA approved a breakthrough pharmaceutical that could treat 90% of cases.

It is easier working with FDA on this kind of approach rather than starting from scratch, Gray told BuzzFeed News by email. After all, he said, its easier to follow a path that youve already walked down.

Similarly, Freed hopes the SLC6A1 Connect advocacy group she started can lead to similar treatments for other children with genetic epilepsies caused by the gene.

I dont think any parent should be expected to single-handedly cure his or her childs rare disease, said Helbig. Amber is a very tenacious and persistent person, and she will fight tooth and nail for her kids. But a lot of people dont have the resources and they shouldnt have to.

Helbig says that cautious optimism is appropriate on the chances of research yielding a genetic therapy for children like Maxwell. For SLC6A1, its really too early to say whether this is going to work.

But if it works, it might lead many more parents to get genetic tests for children that will reveal undiagnosed problems, she said. Many doctors discourage extensive genetic tests, thinking they wont find anything helpful. In the absence of known treatments, insurers are also reluctant to pay for such tests, discouraging all but the most fortunate and resourceful parents. Even for them, there are no guarantees.

The other tough reality is the possibility this treatment wont be completed in time to help Maxwell, said Freed. I love him with every ounce of my being, and I want him to know that I did everything humanly possible to change his outcome.

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This Mom Is Buying Mutant Mice From China To Find A Cure For Her Sons Rare Genetic Disease - BuzzFeed News

Greek-American Doctor’s Research Tackles the Tough Armor of Pancreatic Cancer – Hellenic News of America

By David Bjorkgren, Senior Editor

Special to the Hellenic News

Dr. Despina Siolas has wanted to build an arsenal to fight cancer ever since her mother was diagnosed with colon cancer in the late 1990s.

Because of undergoing this experience growing up, I decided I wanted to work on cancers, specifically gastrointestinal cancers, Dr. Siolas says.

She has always had a scientific curiosity about the world so it was a natural transition to shift to the medical field when she saw how cancer affected the life of her mother and family.

Fortunately, her mom responded well to treatment and she has been cancer-free for 23 years.

Not everyone has had access to effective cancer treatments, however.

In todays world, treatments have been largely ineffective against pancreatic cancer because of that cancers unique biology.

Dr. Siolas would like to change that.

My specific research looks at the immune system in pancreatic cancer and how pancreatic cancer avoids immune detection, she explains.

Pancreatic cancers ability to hide from our own immune systems makes it particularly deadly. It is projected to be the second highest cause of cancer related deaths by next year.

Around the tumor there are immuno-suppressant cells, cells that make it unrecognizable to the immune system, she explains. Were trying to see what the change is in the immune armor that would make cancer evident to the immune system.

Others are enthusiastic about her work. The National Cancer Institute recently gave her the NCI Mentor Clinical Scientist Research Career Development Award.

This prestigious award includes a five-year grant to fund pancreatic cancer research.

Theres not that many recipients. Im the second person in history to receive it for medical oncology.

Immunotherapy, using ones own immune system to eradicate cancer cells, is a relatively new therapy, in use a little less than 10 years.

Its more potent than a lot of chemotherapies and it has the potential to cure the patient. Thats why its very attractive as a therapy, Dr. Siolas says.

But so far its only been largely successful in a handful of cancers, specifically melanoma, lung and bladder cancer. Through her research she hopes to add pancreatic cancer to the list.

Obesity and smoking are two of the key risk factors in contracting pancreatic cancer. Pancreatitis is another way.

Because the obese population is increasing we are seeing an increase in incidents of toxic pancreatic cancer, she says.

Still, there are plenty of those who arent obese or smokers, but are still diagnosed.

Some have a genetic-predisposition for pancreatic cancer, though that doesnt necessarily mean theyll get it.

The big push in the pancreatic cancer field right now is to screen for patients who have an inherited gene, or DNA, that makes them susceptible to getting cancer.

At NYU Langone Medical Center, where Dr. Siolas works, theres a free simple blood test that can screen for the pancreatic cancer gene. Its available to everyone who has a first degree relativea father, mother, sister, brother, daughter or son with pancreatic cancer.

As early detection improves, patients are being treated for smaller tumors that are easier to control and manage.

Cancer treatment overall has improved in the past 10 years, but theres more to do.

Even though our treatments have improvedits not a six-month death sentence it used to be, we have a lot more work to do if we want to cure patients.

Seeing what her mom went through and the effect cancer and treatments had on the family has made Dr. Siolas particularly sensitive to a patients needs.

A life-altering diagnosis brings anxiety to the patient and their families. She takes time to reassure, explaining in understandable terms whats happening to them and what kind of treatments are available.

Ultimately, its their decision on how they want to proceed.

Treating physicians need to know the patients background and circumstances, to help them find the best social support system.

I have a patient who lives alone, has no family so theres no one to check in on him. Theres no one to call him up. We know hes going to have a harder time than a patient who lives with family members who are able to say, hey, youre not feeling well, let me make you something.

These days, there are many more support systems available to cancer patients. Dr. Siolas says places like Penncare and the Pancreatic Cancer Action Network. Theyre really good. They have a lot of programs. They have information to help patients better understand, connect talk to others, she says.

Theres also symptomatic oncology, a relatively new branch of medicine focusing on treating the symptoms of cancer. Patients have access to nutritionists, massage therapist, yoga, acupuncture, even culinary classes.

Whether its treating patients or conducting pure cancer research, Dr. Siolas brings the influences of her parents and her Greek background with her.

It was her father, John Siolas that spurred her interest in science. Holding a Ph.D. in bilingual education, he worked on curriculum development for the New York public school system. He also worked with Greek teachers and the Greek Archdiocese on Hellenic education, devising the Greek Regent Exams, and Greek proficiency tests for students. He lives in Queens today.

He actually has a couple of childrens books in Greek. He also co-authored a Greek childrens magazine in Greek and English.

John Siolas was born in Arcadia, Greece and came to the United States in the 1960s at age 20. An aunt in the United States sponsored him and his siblings to come over.

He started life here in a pizzeria, but studied at night to get his bachelors degree, then his masters. He taught himself English. He was translating words to Greek to understand what they meant, Dr. Siolas says.

John Siolas wanted to go into medicine but that wasnt an option for him back then because of his socio-economic status, she explains.

Her mother, Catherine Siolas, has a masters in Byzantine history at Queens College. She taught Greek at the college level. Today, shes also a licensed real estate broker and a contributing writer to a local news outlet.

Her mother was born in the United States. So were Dr. Siolas grandparents. It was her great-grandparents who immigrated to the United States from Greece in 1922.

Today, Dr. Siolas carries her heritage with her.

Because both of my parents valued the Greek language, arts and culture they instilled in me a respect for ancient and modern Greek language and culture.

Dr. Siolas is married to Laurentino Ibarra, who works for the Federal Reserve. They have a daughter, Penelope Cleopatra Ibarra, 1-year four-months-old. They plan to raise her with a deep love and appreciation of Greek culture and the church.

Dr. Siolas says her Hellenic background lets her connect with other ethnic groups and understand their role in history and the world. Also, having this connection with Greek Americans, with the Greek people, youre never really alone.

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Greek-American Doctor's Research Tackles the Tough Armor of Pancreatic Cancer - Hellenic News of America

Longtime Lung Cancer Thrivers –

Three survivors describe what life looks like seven and 15 years out from diagnosis.

Happily, the answer to both questions turned out to be yes. Two weeks after receiving his diagnosis in September, Pantelas had a lobectomy to treat what was believed to be stage 1b disease. However, the surgery revealed a more dire diagnosis: stage 3b with stage 4 lymph node involvement. Pantelas then received radiation every day for 12 weeks and chemotherapy. His oncologist, Dr. Philip Stella, who provides care at Saint Joseph Mercy Health System in Michigan, worked the infusion schedule around the birth of Pantelas daughter that November. Pantelas and his wife named their baby Stella in honor of his doctor.Pantelas has been in remission since completing treatment in April 2006, and Stella now has two younger sisters. This life is not what I expected when I got my diagnosis, Pantelas says. I am grateful for every day with my family.

Still, the going hasnt been easy. Pantelas had to leave his job in information technology when lingering treatment side effects such as sinus infections, bronchitis, pneumonia and a weakened immune system left him ill and fatigued.

No longer able to work, the self-professed workaholic threw himself into volunteerism. Pantelas sits on several institutional review boards for lung cancer research and clinical trials. In September, he traveled to Kenya as a representative of A Fresh Chapter, a nonprofit organization founded by a breast cancer survivor that facilitates volunteer and leadership experiences to empower people affected by cancer. My goal is to learn how the medical community views and treats cancer in Kenya and to see how we can help pediatric cancer patients get the best care, Pantelas says.

Between the volunteer work and caring for his family as a stay-at-home dad, Pantelas has developed a new perspective. I got my lung cancer diagnosis a month after Peter Jennings (a national television news correspondent) died from the disease, he says. I would sit in waiting rooms staring at his pictures on TV and magazines and wonder if his fate was going to be mine.

In 2020, Pantelas will turn 67 the age his dad was when he died. I never would have thought that I would still be here 15 years after getting a lung cancer diagnosis, he says.

TREATMENT BREAKTHROUGHS ADVANCE LIFEAlthough lung cancer remains the leading cause of cancer deaths worldwide, advancements in treatments are helping people like Pantelas live longer and healthier than ever before. Thanks to the advent of genomic tumor testing, weve seen dramatic changes in precision medicineand targeted treatments for non-small cell lung cancer (NSCLC), which is the most common form of lung cancer, says registered nurse Rebecca Lehto, who holds a doctorate in nursing with a neuro-behavior concentration and is a cancer nursing researcher and an associate professor at Michigan State University in East Lansing.

Historically, treatment for advanced lung cancer included chemotherapy and radiation or, more often, a combination of these therapies. Chemotherapy, in particular, was viewed as a one-type-fits-all regimen, with everyone following the same protocol and receiving the same care. Today, people who receive a diagnosis of advanced NSCLC usually first undergo genomic or molecular testing to check for changes or mutations in tumors called oncogenes. Several somatic gene mutations, such as ALK, EGFR and KRAS, are commonly associated with the development of NSCLC and can likely be treated with a targeted therapy drug.

Armed with this information, doctors can tailor a treatment plan that is proven to be most effective against a patients specific mutation. When I started in this field nearly 20 years ago, people with advanced lung cancer were living six to 12 months after diagnosis. Survival rates today are significantly improved, says Dr. Alice Shaw, who holds a doctorate in genetics and is director of thoracic oncology at Massachusetts General Hospital in Boston.

She urges patients to ask her about survival rates instead of searching the internet. Lung cancer is a very complex disease with different types and causes. Most of the statistics online today are outdated and dont apply to a persons unique circumstances, she says. With the incredible progress taking place these days, its almost impossible for anyone to accurately estimate prognosis. I certainly wouldnt put stock in statistical data found online.

FIGHTING FOR LIFE AND A FAMILYNewlywed Emily Bennett Taylor took great pains to avoid online information when she received a stage 4 lung cancer diagnosis in 2012. I was 28 and still in great shape from my years as a college athlete, says the Long Beach, California, resident. Taylor decided to stay positive and have the upper hand against cancer. In her view, dire statistics based on other peoples circumstances would serve no purpose in her very personal fight.While Taylor and her husband, Miles, awaited results of genomic tumor testing, the couple began discussing their future. I had always wanted children, and I didnt want cancer to take my family away from me, Taylor says. Before beginning cancer treatments, she took the first step of in vitro fertilization: having her eggs harvested, fertilized and stored. Taylor hung images of the frozen embryos in the couples home as a reminder that happy times would follow the dark days.

Unfortunately, genomic profiling of Taylors tumors didnt show any known genetic mutations for lung cancer. Without these markers, Taylor wasnt a candidate for the latest targeted therapies that are helping to extend the lives of people with advanced lung cancer. Chemotherapy was her only option, but even after six months of treatment followed by maintenance therapy, the odds of the cancer returning remained too high for comfort. My doctor felt my best chances at having the life I wanted parenting with my husband as we watched our kids grow up was to try something radical like surgically removing the entire lung, Taylor says.

She and her family turned to the GO2 Foundation for Lung Cancer, a nonprofit patient advocacy organization for survivors and their loved ones. The foundation helped Taylor locate a surgeon willing to do an operation that isnt typically done on people with metastatic lung cancer. On February 8, 2013, Dr. Raja Flores, a thoracic surgeon at Mount Sinai in New York City, surgically removed Taylors diseased right lung, the linings of her chest cavity and lung, lymph nodes, a section of her diaphragm and the membrane surrounding her heart. The intensive surgery was followed by 28 rounds of high-dose chest radiation.

After Taylor had done all she could to fight the disease, the couple waited through two years of clean scans before pursuing their dream of parenthood. Scanxiety is definitely very real and difficult to manage, Taylor says. We learned early on to schedule the scans first thing in the morning on a Monday. That way, results often are available by the afternoon. Taylor says meditation visualizing herself healthy and happy spending time with her family helps her cope with scanxiety and the lingering fear of a cancer recurrence.

Through the help of a surrogate, the couple welcomed twin daughters, Hope and Maggie, into the world in April 2016. Hope was a word often used during her treatment, and Taylor was also treated at City of Hope Medical Center. Maggie was named after Taylors great grandmother. Mothering twin babies has been challenging for Taylor, who fatigues easily and requires a lot of rest. When youre used to being active and independent, its hard to admit that you need help doing even routine things like grocery shopping, Taylor says. But once I accepted my new normal and let people in to help, life became more manageable and enjoyable.

When Taylor isnt busy changing diapers and thwarting tantrums, she speaks at GO2 Foundation events and replies to emails from young people facing a similar diagnosis. People find her through her blog, Emily Kicks Cancer. We originally created that site as a way to keep everyone informed about how I was doing with treatments, Taylor says. Now its a way to offer hope to others. When I was diagnosed, there werent a lot of positive stories about people surviving this type of cancer. I want to change that and inspire others to seek out the best medical care so they can fulfill their life dreams.

MAINTAINING HOPEIn 2012, Susan Warmerdam was 47 when she learned she had stage 4 lung cancer. She was relieved when tumor testing showed EGFR and KRAS mutations: That meant her doctors could try new treatments that hadnt been available to her father, who died of complications of the disease in 1999, 10 months after receiving a diagnosis.

Warmerdam began taking Tarceva (erlotinib), an oral targeted therapy drug. At the time, Tarceva was considered experimental as a first-line treatment for lung cancer; it was approved in 2013 by the Food and Drug Administration for patients with advanced NSCLC who had an EGFR mutation. Warmerdam was still in treatment. She also participated in a clinical trial for another drug that researchers hoped would slow or prevent resistance to Tarceva. Atfirst, I was reluctant to join a clinical trial I didnt want to feel like an experiment, says Warmerdam, who lives in Chicago. But then I realized that if other people hadnt participated in the trial for Tarceva, the treatment wouldnt have been available to me. Plus, you never know when the next new drug will be the miracle cure.

For Warmerdam, Tarceva turned out to be her miracle drug. My doctors said I had a stellar and unforeseen response to the drug, she recalls. The tumors shrank so much that she was able to have surgery in 2013 to remove the lymph nodes and adrenal glands where the cancerhad spread. When testing showed no evidence of cancer in the removed tissue, she had a third surgery, a lobectomy, to remove part of her right lung in January 2014. Once again, that tissue showed no evidence of disease. Warmerdam has been off treatments and cancer free ever since.

When I was diagnosed, doctors told me the cancer was inoperable and incurable. I was given a less than 2% chance of living another five years, Warmerdam says. Here I am seven years later, loving life. Had I taken some peoples advice to quit work and check things off my bucket list, I would be broke today healthy, but broke.

Warmerdam credits a large network of family, friends and colleagues for supporting and guiding her through the most difficult time in her life: I immediately reached out to people who could help. I asked a nutritionist friend to revamp my diet. I asked a friend whos a plumber to install water filters throughout my home.

Throughout her treatments, Warmerdam continued to work at a financial investment firm to keep normalcy in her life. She formed a hope-and-healing cancer group at her church. Over the years, with the help of her network, she has raised more than $370,000 for the American Lung Associations lung cancer research efforts.

When people come to me for advice, I tell them I am proof that a lung cancer diagnosis is not a death sentence. Stay positive and hopeful because the next drug you need may be right around the corner, Warmerdam says. But you have to educate yourself so that you can be your own best advocate.

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Longtime Lung Cancer Thrivers -

Mother suing NHS trust after doctors failed to reveal Huntington’s disease risk – inews

NewsHealthWoman alleges that St George's in London owed her a duty of care to tell her of her father's diagnosis given staff knew she was pregnant

Monday, 18th November 2019, 7:57 pm

A woman is suing a NHS trust for not revealing her father had been diagnosed with Huntington's disease before she had her own child.

The woman, known as ABC, learned by accident that her father carried the gene for the degenerative, incurable brain disorder four months after her daughter was born. She was tested and found she had inherited the Huntington's gene, which means she will eventually develop the disease. Her daughter has not been tested, but has a 50:50 chance of inheriting it.

The woman alleges that St George's NHS Trust, London, owed her a duty of care to tell her of her father's diagnosis, given that doctors there knew she was pregnant. ABC says that had she known about her father's condition she would have had a genetic test and would have had an abortion, rather than allowing her daughter to run the risk of inheriting the disease or having to look after a seriously ill parent.

At the time, ABC and her father were undergoing family therapy organised by the NHS, so she argues that there was an obligation to protect her psychological or physical well-being. The NHS said the case raised competing duty of care and duty of confidentiality issues.

Secret of father's illness

If ABC wins the case, it would trigger a major shift in the rules governing patient confidentiality, and raise questions over the potential duty of care owed to family members following genetic testing.

In 2007, ABCs father shot and killed her mother. He was convicted of manslaughter on the grounds of diminished responsibility and detained under the Mental Health Act. It was suspected that he might be suffering from Huntingtons.

About 8,500 people in the UK have Huntington's disease and a further 25,000 will develop it when they are older. It is a rare inherited disorder which progressively destroys brain cells. Huntington's generally affects people in their prime - in their 30s and 40s - and patients die about 10 to 20 years after symptoms start. Some patients describe it as having Parkinson's, Alzheimer's and motor neurone disease rolled into one.

When his diagnosis was confirmed in 2009 by doctors at the trust, ABC's father told medics he did not want his daughter informed. She had told him she was pregnant and he told doctors he feared she might kill herself or have an abortion.

This case was first argued at the High Court in 2015 when a judge ruled that a full hearing should not go ahead. The judgement said there was "no reasonably arguable duty of care" owed to ABC. But in 2017, the Court of Appeal reversed that decision and said the case should go to trial. Experts say disclosure of personal information, without the consent of a patient, may be justified to prevent exposing others to a risk of death or serious harm.

'Duty of confidentiality'

Emily Jackson, a law professor at the London School of Economics, said: "If a patient doesn't want her doctor to tell her children about her terminal diagnosis, for example, or her HIV status, then it goes without saying that the doctor should respect the patient's confidence.

"The complicating factor with a genetic diagnosis is that it isn't just information about the individual patient, but it also reveals that his or her relatives are at risk. In such circumstances, and where the relative could act upon that information, should the doctor's duty be extended to the patient's close family members?"

A spokesperson for St George's Healthcare NHS Trust said: "This case raises complex and sensitive issues in respect of the competing interests between the duty of care and the duty of confidentiality. It will be for the court to adjudicate on those issues during the trial."

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Mother suing NHS trust after doctors failed to reveal Huntington's disease risk - inews

Hip osteoarthritis: 6 ways to treat it – Medical News Today

Osteoarthritis, sometimes called "wear and tear" arthritis, is a common degenerative condition. Doctors can treat osteoarthritis with medication and surgery. People can also manage their symptoms with different exercises and stretches.

Osteoarthritis is the most widespread form of arthritis. The Arthritis Foundation estimate that in excess of 30 million people in the United States have osteoarthritis.

Although osteoarthritis can occur in any joint, it commonly affects the weight-bearing joints, such as the knees and hips.

Read on to find out more about osteoarthritis of the hip. We discuss what causes the condition, how doctors diagnose it, and the different ways to treat it.

Treatments for osteoarthritis focus on reducing pain and improving mobility. Effective ways to treat osteoarthritis include the following:

Pain management is essential for people living with hip osteoarthritis. People can treat mild to moderate pain with over-the-counter pain relievers, such as acetaminophen and nonsteroidal anti-inflammatory drugs (NSAIDs).

People who have moderate to severe osteoarthritis may experience more intense pain. In such cases, prescription pain relief may be necessary.

Some people may require medications to help slow the progression of arthritis or reduce some of the symptoms. Examples of such drugs include:


Corticosteroids control inflammation by mimicking the effects of cortisol, a hormone that regulates the immune system.

People can take oral corticosteroid tablets. Doctors can also inject corticosteroids directly into the hip joint. However, corticosteroid injections offer only temporary pain relief. People will require additional injections going forward.

Hyaluronic acid injections

Another potential treatment for osteoarthritis is an injection of hyaluronic acid into the hip joint or another joint that osteoarthritis is affecting.

In 2019, the Food and Drug Administration (FDA) approved a hyaluronic acid injection for treating osteoarthritis of the knee.

Although some doctors have used the injection to treat osteoarthritis of the hip, the FDA has not yet approved it for this use.

Hyaluronic acid injections do not affect everyone in the same way. Some people do not experience any pain relief after receiving the injection. However, approximately 30% of people stay pain free for up to two years, according to the Arthritis Foundation.

Physical therapists are trained healthcare professionals who specialize in diagnosing and treating conditions that limit mobility. People with hip osteoarthritis may benefit from physical therapy sessions.

During the initial session, the therapist will assess the person's physical condition and any specific mobility problems they have. They will then devise a set of tailored exercises to help improve mobility.

The therapist teaches people how to perform each exercise so that they can safely continue their treatment at home. They may also recommend additional treatment options, such as braces, walkers, or hot and cold therapy.

Some people experience severe hip pain or stiffness that significantly affects their quality of life. These people may benefit from surgery.

There are two main surgical options for hip osteoarthritis:

Hip resurfacing

This procedure involves trimming or shaving away damaged bone on the femoral head. The femoral head is the upper end of the thigh bone, which sits inside the hip socket.

After removing the damaged bone, the surgeon covers the femoral head with metal. The surgeon also fits a metal cup inside the hip socket.

Total hip replacement

During this procedure, a surgeon replaces the entire hip joint, including the femoral head and the socket. In their place, the surgeon fits artificial components made of metal, plastic, or ceramic.

Each surgical option carries benefits and risks. A doctor will guide people through the available options before deciding on the best treatment to pursue.

Stem cells are cells that have the potential to develop into a range of different cell types. Researchers are currently looking into whether stem cell therapies could help to replace and regenerate damaged tissues within the human body.

Mesenchymal stem cells are stem cells that can develop into bone and cartilage, among other types of tissue. According to a 2018 review, mesenchymal stem cells could help to repair damaged cartilage and reduce inflammation in knee osteoarthritis.

However, stem cell therapy is not yet ready for use in clinical settings. Advances in gene editing techniques may help overcome many of the limitations currently facing stem cell therapy.

Exercises that may help manage symptoms of hip osteoarthritis include:

Stretching every day can also help to improve flexibility and relieve joint stiffness and pain. Consider the following stretches:

Sitting hip flexion


Hip opener

Forward fold

People can also perform this stretch from a seated position:

Cartilage is a rubber-like tissue that covers the ends of the bones in the joints. Here, it acts as a cushion that prevents the end of one bone from rubbing against the end of an adjoining one. It also provides lubrication that allows the joint to move easily and painlessly.

In osteoarthritis, the cartilage inside the joints wears away, causing two or more bones to rub together. This process results in joint inflammation, swelling, and pain.

The risk of osteoarthritis increases with age. As people grow older, the cartilage cushions between their joints slowly deteriorate. The symptoms of discomfort and pain tend to worsen as the cartilage continues to break down.

To diagnose hip osteoarthritis, a doctor will take a person's medical history and carry out a physical examination of the joints. The doctor may also order the following diagnostic tests:

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Hip osteoarthritis: 6 ways to treat it - Medical News Today

Ocugen Stock Is Nothing More than a Risky Trade on Even-riskier Biotech –

For those looking to knock one out of the park, the biotechnology sector frequently provides the catalysts you need. Case in point is Ocugen (NASDAQ:OCGN), a gene therapies provider that specializes in rare eye diseases. Previously a privately held company, OCGN entered into a reverse merger with Histogenics. Essentially, Histogenics shares, HSGX, has become Ocugen stock.

Source: Shutterstock

Under the terms of the deal, Histogenics shareholders collectively hold about 10% of the new, combined company, which will include only Ocugens lean team. Since OCGN stock has been struggling in the markets due to a clinical failure of Histogenics flagship NeoCart therapy a regenerative therapy for treating knee cartilages the reverse merger made sense for Histogenics.

But for Ocugen, the benefits, at least from a scientific perspective was unintuitive. Both companies are involved in cell therapies, but thats where the similarities end. Primarily, Histogenics focused on orthopedics, while Ocugen focuseed on rare eye diseases. You dont have to be a medical doctor to recognize that the human eye is more complex than your foot.

Nevertheless, the appeal for contrarian investors is the vast historical disparity in the Ocugen stock price. A year-and-a-half ago, OCGN stock was firmly trading in three-digit territory. Now, you can get an equity share for well under a buck. Afew years back, the OCGN stock price was above $500. Therefore, a return to $100 isnt that unreasonable, strictly under this context.

At the same time, this price swing emphasizes how incredibly quick fortunes can evaporate. After all, some poor soul bought Ocugen stock as it approached $700 following its initial public offering.

Its this latter sentiment you should focus on if youre considering gambling on OCGN.

One of the main reasons why small biotech firms are so volatile is because they have their eggs in one basket. Typically, theyll have either a single or very few viable therapies. If they pass clinical trials, their shares can soar. Or, they become a buyout target by a big pharmaceutical company.

If they dont, these smaller players usually dont have the resources to stay afloat. Thats the biggest risk hanging over OCGN stock.

If you look at the underlying companys financials, youll see that it doesnt generate any revenues. As a result, theyre relying on grants, cash holdings or equity dilution to keep from drowning. None of these factors are viable for Ocugen stock. Investors are not comfortable with the drug pipeline performance, nor does OCGN have gobs of cash.

As far as using the capital markets, Im not sure how low Ocugen stock can go.

Because of its stretched financials, Ocugen really needs to have high-probability therapies. However, because of the companys focus on rare eye diseases, this places them in a quandary. Usually, rare diseases are incredibly difficult to address. More importantly from an investment perspective, the scale just isnt there.

That may sound cold to those who suffer from these rare conditions. But the reality is, if a biotech firm produces a treatment for rare diseases, it will launch into a limited market. Thus, that firm has no choice but to ramp up prices.

In prior years, biotech firms could get away with this business practice. But with healthcare costs becoming red-hot issue for the 2020 election, the incentive to drive up prices evaporated. So, even if Ocugen did roll out a groundbreaking therapy, they would do so at a very sensitive time.

As someone who takes a more speculative approach to investing, Im not against others following suit. But theres a difference between gambling and being stupid with your money.

I have a tough time appreciating any bull case for OCGN stock. Clearly, the Histogenics portion of the reverse merger hasnt added substantively to Ocugens narrative. From a technical standpoint, share prices dropping below a buck is a serious red flag. Thats especially so for shares that once traded for several Benjamins.

As of this writing, Josh Enomoto did not hold a position in any of the aforementioned securities.

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Ocugen Stock Is Nothing More than a Risky Trade on Even-riskier Biotech -

FDA halts trial of Duchenne gene therapy treatment from Solid Biosciences – The Boston Globe

The Food and Drug Administration has halted a clinical trial involving a Duchenne muscular dystrophy gene therapy from Solid Biosciences after a patient suffered serious kidney and blood-related injuries, the company said Tuesday.

This is the third time that the Cambridge-based Solid Biosciences has run into a serious safety problem with its gene therapy. The FDA placed similar clinical holds on the same clinical trial after each prior incident, but later allowed the company to proceed with patient dosing.

The gene therapy uses an inactivated virus to deliver a miniaturized but functional version of the dystrophin gene to muscle cells. The gene therapy is designed to be a one-time and potentially curative treatment for all Duchenne patients, regardless of the mutation that causes their disease.

Sarepta Therapeutics and Pfizer are also developing their own gene therapies targeted at Duchenne.

Six patients have been dosed with Solid Biosciences gene therapy, starting with three at a lower dose; interim results in those patients were previously reported and found to be disappointing. Three more patients were then treated at a higher dose.

The sixth patient became ill soon after being treated in October, experiencing an over-activation of the immune system, an acute kidney injury, reductions in platelets and red blood cells, and cardio-pulmonary insufficiency, the company said.

All of the toxicities were deemed related to the treatment by the patients doctor. The patient is being treated and is recovering, the company said.

Solid Biosciences reported the patients status to the FDA, which then placed the clinical trial on hold. In a statement, the company said it will work with the FDA in an effort to resolve the hold and determine next steps for the clinical trial.

Pfizers Duchenne gene therapy has also been tied to similar immune system over-activation and related kidney toxicity, although its clinical trial remains active.

Adam Feuerstein can be reached at

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FDA halts trial of Duchenne gene therapy treatment from Solid Biosciences - The Boston Globe

Solid’s Duchenne gene therapy trial halted after patient suffers toxicity – STAT

The Food and Drug Administration has halted a clinical trial involving a Duchenne muscular dystrophy gene therapy from Solid Biosciences (SLDB) after a patient suffered serious kidney and blood-related injuries, the company said Tuesday.

This is the third time that the Cambridge, Mass.-based Solid has run into a serious safety problem with its gene therapy, called SGT-001. The FDA placed similar clinical holds on the same clinical trial after each prior incident, but later allowed the company to proceed with patient dosing.

SGT-001 uses an inactivated virus to deliver a miniaturized but functional version of the dystrophin gene to muscle cells. The gene therapy is designed to be a one-time and potentially curative treatment for all Duchenne patients, regardless of the mutation that causes their disease.


Sarepta Therapeutics (SRPT) and Pfizer (PFE) are also developing their own gene therapies targeted at Duchenne.

Six patients have been dosed with SGT-001, starting with three at a lower dose; interim results in those patients were previously reported and found to be disappointing. Three more patients were then treated at a higher dose of SGT-001.

The sixth patient became ill soon after being treated in October, experiencing an over-activation of the immune system, an acute kidney injury, reductions in platelets and red blood cells, and cardio-pulmonary insufficiency, Solid said.

All of the toxicities were deemed related to SGT-001 by the patients treating doctor. The patient is being treated and is recovering, Solid said.

Solid reported the patients status to the FDA, which then placed the clinical trial on hold. In a statement, the company said it will work with the FDA in an effort to resolve the hold and determine next steps for the clinical trial.

Pfizers Duchenne gene therapy has also been tied to similar immune system over-activation and related kidney toxicity, although its clinical trial remains active.

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Solid's Duchenne gene therapy trial halted after patient suffers toxicity - STAT

Her daughter may die by age 10, but this mom keeps fighting to cure her rare disease – ABC News

There is not enough time in the day for Amber Olsen.

An average day for this mother means working as a business owner of the staffing company, Nextaff Gulf Coast, taking care of her two teenage daughters and finding a cure for her youngest daughter, Willow, who has a rare genetic disease.

Now 6 years old, Willow has been diagnosed with multiple sulfatase deficiency and is not expected to live past the age of 10.

Olsen has made it her mission to find a cure for this life-threatening illness, if not to save her own daughter then to help give other families a fighting chance.

Willow was born Aug. 21, 2013, after a healthy pregnancy.

She was a happy baby who loved getting kisses from her two older sisters and her parents.

Amber, now 44, noticed that Willow was delayed when it came to milestones such as crawling and walking.

I just kind of have that mama instinct, Olsen told GMA. She could walk and run, but she walked like Frankenstein ... with her arms out and stuff.

After taking Willow to a neurologist, the family learned that she was showing signs of regression, and eventually lost the ability to walk and move anything except her hands.

Through genetic testing, they learned that Willow had multiple sulfatase deficiency, a rare, inherited lysosomal storage disease, where the body is unable to rid itself of cellular waste.

"Multiple sulfatose deficiency is an ultra rare disease that affects kids from birth," Rebecca Ahrens-Nicklas, assistant professor of pediatrics at The Children's Hospital of Philadelphia told "GMA." "Basically, it can affect all parts of their body where it causes buildup of material that are clear in our body. When these materials build up, they can cause damage to all different parts of your body."

This disease tends to affect the brain the most.

When doctors first told Olsen about her daughters diagnosis in 2016, they expressed that there wasnt a real treatment or cure.

There's nothing you can do [except] take her home and be with her, and just try to keep her comfortable, and she will die, Olsen said.

It has been estimated that there is currently 50-75 kids in the United States that are currently living with MSD, according to Ahrens-Nicklas, and there is no official cure.

Nicklas says the Children's Hospital of Philadelphia is currently trying to find every child in the United States who has MSD to conduct a study of the disease.

"Because it's such a rare disease, it's somewhat variable also," Ahrens-Nicklas said. "We estimate that the life expectancy in good medical care today is between 10-20 years, but we honestly don't know and it is incredibly variable."

Shortly after she was diagnosed, Willow went back to crawling and then she reached a point where she couldnt move at all. She had to move around in a walker.

Willows mother compared the disease to Alzheimers because of the changes that the person goes through, and how difficult it can be having to adapt and kind of be on unstable ground.

Willow cannot speak, but her parents know she is still cognitively processing everything around her.

You can see the spark in her eye, Olsen shared. She smiles, she laughs, so, you know she's still there but has a lot of issues.

Olsen is devoted to making her little girl happy. She even shares a special morning routine with her daughter where she does "Superman" stretches with her to help move her limbs.

So when she learned the devastating news about her daughter's diagnosis, she was not going to sit and watch her health fade away. If no one knew of a cure, she was going to find it herself.

She immediately Googled other parents who had children with the same condition and came across a couple in Ireland, Alan & Michelle Finglas, who had created the MSD Action Foundation, inspired by their own son, Dylan, who had MSD.

"When we met the dad, he said, 'We just need time and money. It's a single gene disorder. There is science out there that could save these children, so we have to band together and work together,'" Olsen shared.

She and her husband flew back to Europe shortly after that to meet with scientists, who told them that in order to find a treatment, they needed to gather the funds.

This inspired Olsen to start fundraising and researching the disease more.

I'm not a doctor or a nurse and I never knew anything about medical stuff, she said. "It was a huge learning curve in a very quick amount of time.

Just a few months after Willows diagnosis, her mother created United MSD Foundation, a nonprofit organization that would work towards funding research to create a clinical trial to help children like Willow suffering from MSD.

The organizations goal was to raise $3 million for pre-clinical research, manufacturing of medicine and Phase 1 of the clinical trial.

Olsen helped established a scientific advisory board, put out a request for research proposal and recruited Dr. Steven Gray, associate professor of pediatrics at UT Southwestern Medical Center, to be their lead researcher in the field of gene therapy to develop a treatment for MSD.

She says her biggest challenge has been driving this organization as someone who is not a medical professional.

Despite the fact that she flunked biology when she was in grade school, Olsen takes classes in genetics and science to understand the research work for MSD.

She is committed to doing everything she can to help Willow.

With the help of scientists and volunteers, the United MSD Foundation has raised over $2 million within two years and is currently about $620,000 away from its goal to fund a gene therapy clinical trial for children.

Olsen believes that if her daughter cannot be saved, at least she has the opportunity to save the lives of others.

We all want to grow up and go to school and get married and have children, so we make a difference in the world, and she doesn't have ... very many of those opportunities, Olsen said.

I just think that's so important ... you know her legacy.

Through the grueling hours of phone calls, research and worrying, the mom has learned to cherish the little moments.

[Willows] giggling about something that I was doing with her and we're all excited that she just laughed, Olsen said. It's those little moments that I think we see and take advantage of more, way more, than we used to, and kind of slow down and appreciate that.

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Her daughter may die by age 10, but this mom keeps fighting to cure her rare disease - ABC News

Behind the Scenes of a Radical New Cancer Cure – Scientific American

An unexpected early morning phone call from the hospital is never good news. When Joy Johnson answered, her first thought was that Sharon Birzer, her partner of 15 years, was dead. Her fears were amplified by the voice on the other end refusing to confirm or deny it. Just come in and talk to one of the doctors, she remembers the voice saying.

Johnson knew this was a real possibility. A few weeks earlier, she and Birzer sat in the exam room of a lymphoma specialist at Stanford University. Birzers cancer had grown, and fast first during one type of chemotherapy, then through a second. Out of standard options, Birzers local oncologist had referred her for a novel treatment called chimeric antigen receptor T-cell therapy or CAR-T. Birzer and Johnson knew the treatment was risky. They were warned there was a chance of death. There was also a chance of serious complications such as multi-organ failure and neurological impairment. But it was like warning a drowning person that her lifeboat could have problems. Without treatment, the chance of Birzers death was all but certain. She signed the consent form.

Johnson hung up the phone that early morning and sped to the hospital. She met with a doctor and two chaplains in a windowless room in the cancer ward, where happy photos of cancer alumni smiled down from the walls. This is getting worse and worse, Johnson thought. As she remembers it, the doctor went through the timeline of what happened for 10 minutes, explaining how Birzer became sicker and sicker, before Johnson interrupted with the thought splitting her world in two: I need you to tell me whether shes alive or dead.

Birzer wasnt dead. But she was far from okay. The ordeal began with Birzer speaking gibberish. Then came seizures so severe there was concern she wouldnt be able to breathe on her own. When it took a few different medications to stop Birzer from seizing, her doctors sedated her, put a breathing tube down her throat, and connected her to a ventilator. Now, she was unconscious and in the intensive care unit (ICU).

Birzer was one of the early patients to receive CAR-T, a radical new therapy to treat cancer. It involved removing Birzers own blood, filtering for immune cells called T-cells, and genetically engineering those cells to recognize and attack her lymphoma. CAR-T made history in 2017 as the first FDA-approved gene therapy to treat any disease. After three to six months of follow-up, the trials that led to approval showed response rates of 80 percent and above in aggressive leukemias and lymphomas that had resisted chemotherapy. Patients on the brink of death were coming back to life.

This is something I often dream of seeing but rarely do. As a doctor who treats cancer, I think a lot about how to frame new treatments to my patients. I never want to give false hope. But the uncertainty inherent to my field also cautions me against closing the door on optimism prematurely. We take it as a point of pride that no field of medicine evolves as rapidly as cancer the FDA approves dozens of new treatments a year. One of my biggest challenges is staying up to date on every development and teasing apart what should and shouldnt change my practice. I am often a mediator for my patients, tempering theoretical promises with everyday realism. To accept a research finding into medical practice, I prefer slow steps showing me proof of concept, safety, and efficacy.

CAR-T, nearly three decades in the making, systemically cleared these hurdles. Not only did the product work, its approach was also unique among cancer treatments. Unlike our usual advances, this wasnt a matter of prescribing an old drug for a new disease or remixing known medications. CAR-T isnt even a drug. This is a one-time infusion giving a person a better version of her own immune system. When the FDA approved its use, it wasnt a question of whether my hospital would be involved, but how we could stay ahead. We werent alone.

Today, two FDA-approved CAR-T products called Kymriah and Yescarta are available in more than 100 hospitals collectively across the U.S. Hundreds of clinical trials are tinkering with dosages, patient populations, and types of cancer. Some medical centers are manufacturing the cells on-site.

The FDA approved CAR-T with a drug safety program called a Risk Evaluation and Mitigation Strategy (REMS). As I cared for these patients, I quickly realized the FDAs concerns. Of the 10 or so patients Ive treated, more than half developed strange neurologic side effects ranging from headaches to difficulty speaking to seizures to falling unconscious. We scrambled to learn how to manage the side effects in real time.

Johnson and Birzer, who I didnt treat personally but spoke to at length for this essay, understood this better than most. Both had worked in quality control for a blood bank and were medically savvier than the average patient. They accepted a medical system with a learning curve. They were fine with hearing I dont know. Signing up for a trailblazing treatment meant going along for the ride. Twists and bumps were par for the course.

Cancer, by definition, means something has gone very wrong within a cell has malfunctioned and multiplied. The philosophy for fighting cancer has been, for the most part, creating and bringing in treatments from outside the body. Thats how we got to the most common modern approaches: Chemotherapy (administering drugs to kill cancer),radiation(using high energy beams to kill cancer), and surgery (cutting cancer out with a scalpel and other tools). Next came the genetics revolution, with a focus on creating drugs that target a precise genetic mutation separating a cancer cell from a normal one. But cancers are genetically complex, with legions of mutations and the talent to develop new ones. Its rare to have that one magic bullet.

Over the last decade or so, our approach shifted. Instead of fighting cancer from the outside, we are increasingly turning in. The human body is already marvelously equipped to recognize and attack invaders, from the common cold to food poisoning, even if the invaders are ones the body has never seen before. Cancer doesnt belong either. But since cancer cells come from normal ones, theyve developed clever camouflages to trick and evade the immune system. The 2018 Nobel Prize in Physiology or Medicine was jointly awarded to two researchers for their work in immunotherapy, a class of medications devoted to wiping out the camouflages and restoring the immune systems upper hand. As I once watched a fellow oncologist describe it to a patient: Im not treating you. You are treating you.

What if we could go one step further? What if we could genetically engineer a patients own immune cells to spot and fight cancer, as a sort of best hits of genetic therapy and immunotherapy?

Enter CAR-T. The technology uses T-cells, which are like the bouncers of the immune system. T-cells survey the body and make sure everything belongs. CAR-T involves removing a persons T-cells from her blood and using a disarmed virus to deliver new genetic material to the cells. The new genes given to the T-cells help them make two types of proteins. The first giving the technology its name is a CAR, which sits on the T-cells surface and binds to a protein on the tumor cells surface, like a lock and key. The second serves as the T-cells caffeine jolt, rousing it to activate. Once the genetic engineering part is done, the T-cells are prodded to multiply by being placed on a rocking device that feeds them nutrients while filtering their wastes. When the cells reach a high enough number a typical dose ranges from hundreds of thousands to hundreds of millions they are formidable enough to go back into the patient. Once inside, the cancer provokes the new cells to replicate even more. After one week, a typical expansion means multiplying by about another 1,000-fold.

Practically, it looks like this: A person comes in for an appointment. She has a catheter placed in a vein, perhaps in her arm or her chest, that connects to a large, whirring machine which pulls in her blood and separates it into its components. The medical team set the T-cells aside to freeze while the rest of the blood circulates back into the patient in a closed loop. Then, the hospital ships the cells frozen to the relevant pharmaceutical companys headquarters or transports them to a lab on-site, where thawing and manufacturing takes from a few days to a few weeks. When the cells are ready, the patient undergoes about three days of chemotherapy to kill both cancer and normal cells, making room for the millions of new cells and eradicating normal immune players that could jeopardize their existence. She then gets a day or two to rest. When the new cells are infused back into her blood, we call that Day 0.

I remember the first time I watched a patient get his Day 0 infusion. It felt anti-climactic. The entire process took about 15 minutes. The CAR-T cells are invisible to the naked eye, housed in a small plastic bag containing clear liquid.

Thats it? my patient asked when the nurse said it was over. The infusion part is easy. The hard part is everything that comes next.

Once the cells are in, they cant turn off. That this may cause collateral damage was evident from the start. In 2009 working in parallel with other researchers at Memorial Sloan Kettering Cancer Center in New York and the National Cancer Institute in Maryland oncologists at the University of Pennsylvania opened a clinical trial for CAR-T in human leukemia patients. (Carl June, who led the CAR-T development, did not respond to Undarks interview request.) Of the first three patients who got CAR-T infusions, two achieved complete remission but nearly died in the process. The first was a retired corrections officer named Bill Ludwig, who developed extremely high fevers and went into multi-organ failure requiring time in the ICU. At the time, the medical teams had no idea why it was happening or how to stop it. But time passed. Ludwig got better. Then came the truly incredible part: His cancer was gone.

With only philanthropic support, the trial ran out of funding. Of the eligible patients they intended to treat, the Penn doctors only treated three. So they published the results of one patient in the New England Journal of Medicine and presented the outcomes of all three patients, including Ludwig, at a cancer conference anyway. From there, the money poured in. Based on the results, the Swiss pharmaceutical company Novartis licensed the rights of the therapy.

The next year, six-year-old Emily Whitehead was on the brink of death when she became the first child to receive CAR-T. She also became extremely ill in the ICU, and her cancer was also eventually cured. Her media savvy parents helped bring her story public, making her the poster child for CAR-T. In 2014, the FDA granted CAR-T a breakthrough therapy designation to expedite the development of extremely promising therapies. By 2017, a larger trial gave the treatment to 75 children and young adults with a type of leukemia B-cell acute lymphoblastic leukemia that failed to respond to chemotherapy. Eighty-one percent had no sign of cancer after three months.

In August 2017, the FDA approved a CAR-T treatment as the first gene therapy in the U.S. The decision was unanimous. The Oncologic Drugs Advisory Committee, a branch of the FDA that reviews new cancer products, voted 10 to zero in favor of Kymriah. Committee members called the responses remarkable and potentially paradigm changing. When the announcement broke, a crowd formed in the medical education center of Penn Medicine, made up of ecstatic faculty and staff. There were banners and T-shirts. A remarkable thing happened was the tagline, above a cartoon image of a heroic T-cell. Two months later, in October 2017, the FDA approved a second CAR-T formulation called Yescarta from Kite Pharma, a subsidiary of Gilead Sciences, to treat an aggressive blood cancer in adults called diffuse large B-cell lymphoma, the trial of which had shown a 54 percent complete response rate, meaning all signs of cancer had disappeared. In May 2018, Kymriah was approved to treat adults with non-Hodgkin lymphoma.

That year, the American Society of Clinical Oncology named CAR-T the Advance of the Year, beating out immunotherapy, which had won two years in a row. When I attended the last American Society of Hematology meeting in December 2018, CAR-T stole the show. Trying to get into CAR-T talks felt like trying to get a photo with a celebrity. Running five minutes late to one session meant facing closed doors. Others were standing room only. With every slide, it became difficult to see over a sea of smartphones snapping photos. At one session I found a seat next to the oncologist from my hospital who treated Birzer. Look, she nudged me. Do you see all these non-member badges? I turned. Members were doctors like us who treated blood cancers. I couldnt imagine who else would want to be here. Who are they? I asked. Investors, she said. It felt obvious the moment she said it.

For patients, the dreaded c word is cancer. For oncologists, its cure. When patients ask, Ive noticed how we gently steer the conversation toward safer lingo. We talk about keeping the cancer in check. Cure is a dangerous word, used only when so much time has passed from her cancer diagnosis we can be reasonably certain its gone. But that line is arbitrary. We celebrate therapies that add weeks or months because the diseases are pugnacious, the biology diverse, and the threat of relapse looming. Oncologists are a tempered group, or so Ive learned, finding inspiration in slow, incremental change.

This was completely different. These were patients who would have otherwise died, and the trials were boasting that 54 to 81 percent were cancer-free upon initial follow-up. PET scans showed tumors that had speckled an entire body melt away. Bone marrow biopsies were clear, with even the most sensitive testing unable to detect disease.

The dreaded word was being tossed around could this be the cure weve always wanted?

When a new drug gets FDA approval, it makes its way into clinical practice, swiftly and often with little fanfare. Under the drug safety program REMS, hospitals offering CAR-T were obligated to undergo special training to monitor and manage side effects. As hospitals worked to create CAR-T programs, oncologists like me made the all too familiar transition from first-time user to expert.

It was May 2018 when I rotated through my hospitals unit and cared for my first patients on CAR-T. As I covered 24-hour shifts, I quickly learned that whether I would sleep that night depended on how many CAR-T patients I was covering. With each treatment, it felt like we were pouring gasoline on the fire of patients immune systems. Some developed high fevers and their blood pressures plummeted, mimicking a serious infection. But there was no infection to be found. When resuscitating with fluids couldnt maintain my patients blood pressures, I sent them to the ICU where they required intensive support to supply blood to their critical organs.

We now have a name for this effect cytokine release syndrome that occurs in more than half of patients who receive CAR-T, starting with Ludwig and Whitehead. The syndrome is the collateral damage of an immune system on the highest possible alert. This was first seen with other types of immunotherapy, but CAR-T took its severity to a new level. Usually starting the week after CAR-T, cytokine release syndrome can range from simple fevers to multi-organ failure affecting the liver, kidneys, heart, and more. The activated T-cells make and recruit other immune players called cytokines to join in the fight. Cytokines then recruit more immune cells. Unlike in the early trials at Penn, we now have two medicines to dampen the effect. Steroids calm the immune system in general, while a medication called tocilizumab, used to treat autoimmune disorders such as rheumatoid arthritis, blocks cytokines specifically.

Fortuity was behind the idea of tocilizumab: When Emily Whitehead, the first child to receive CAR-T, developed cytokine release syndrome, her medical team noted that her blood contained high levels of a cytokine called interleukin 6. Carl June thought of his own daughter, who had juvenile rheumatoid arthritis and was on a new FDA-approved medication that suppressed the same cytokine. The team tried the drug, tocilizumab, in Whitehead. It worked.

Still, we were cautious in our early treatments. The symptoms of cytokine release syndrome mimic the symptoms of severe infection. If this were infection, medicines that dampen a patients immune system would be the opposite of what youd want to give. There was another concern: Would these medications dampen the anti-cancer activity too? We didnt know. Whenever a CAR-T patient spiked a fever, I struggled with the question is it cytokine release syndrome, or is it infection? I often played it safe and covered all bases, starting antibiotics and steroids at the same time. It was counterintuitive, like pressing both heat and ice on a strain, or treating a patient simultaneously with fluids and diuretics.

The second side effect was even scarier: Patients stopped talking. Some, like Sharon Birzer spoke gibberish or had violent seizures.Some couldnt interact at all, unable to follow simple commands like squeeze my fingers. How? Why? At hospitals across the nation, perfectly cognitively intact people who had signed up to treat their cancer were unable to ask what was happening.

Our nurses learned to ask a standardized list of questions to catch the effect, which we called neurotoxicity: Where are we? Who is the president? What is 100 minus 10? When the patients scored too low on these quizzes, they called me to the bedside.

In turn, I relied heavily on alaminated booklet, made by other doctors who were using CAR-T, which we tacked to a bulletin board in our doctors workroom. It contained a short chart noting how to score severity and what to do next. I flipped through the brightly color-coded pages telling me when to order a head CT-scan to look for brain swelling and when to place scalp electrodes looking for seizures. Meanwhile, we formed new channels of communication. As I routinely called a handful of CAR-T specialists at my hospital in the middle of the night, national consortiums formed where specialists around the country shared their experiences. As we tweaked the instructions, we scribbled updates to the booklet in pen.

I wanted to know whether my experience was representative. I came across an abstract and conference talk that explored what happened to 277 patients who received CAR-T in the real world, so I emailed the lead author, Loretta Nastoupil, director of the Department of Lymphoma and Myeloma at the University of Texas MD Anderson Cancer Center in Houston. Fortuitously, she was planning a trip to my university to give a talk that month. We met at a caf and I asked what her research found. Compared to the earlier trials, the patients were much sicker, she said. Of the 277 patients, more than 40 percent wouldnt have been eligible for the very trials that got CAR-T approved. Was her team calling other centers for advice? They were calling us, she said.

Patients included in clinical trials are carefully selected. They tend not to have other major medical problems, as we want them to survive whatever rigorous new therapy we put them through. Nastoupil admits some of it is arbitrary. Many criteria in the CAR-T trials were based on criteria that had been used in chemotherapy trials. These become standard languages that apply to all studies, she said, listing benchmarks like a patients age, kidney function, and platelet count. But we have no idea whether criteria for chemotherapy would apply to cellular therapy.

Now, with a blanket FDA approval comes clinical judgment. Patients want a chance. Oncologists want to give their patients a chance. Young, old, prior cancer, heart disease, or liver disease without strict trial criteria, anyone is fair game.

When I was making rounds at my hospital, I never wandered too far from these patients rooms, medically prepared for them to crash at any moment. At the same time, early side effects made me optimistic. A bizarre truism in cancer is that side effects may bode well. They could mean the treatment is working. Cancer is usually a waiting game, requiring months to learn an answer. Patients and doctors alike seek clues, but the only real way to know is waiting: Will the next PET scan show anything? What are the biopsy results?

CAR-T was fundamentally different from other cancer treatments in that it worked fast. Birzers first clue came just a few hours after her infusion. She developed pain in her lower back. She described it as feeling like she had menstrual cramps. A heavy burden of lymphoma lay in her uterus. Could the pain mean that the CAR-T cells had migrated to the right spot and started to work? Her medical team didnt know, but the lead doctors instinct was that it was a good sign.

Two days later, her temperature shot up to 102. Her blood pressure dropped. The medical team diagnosed cytokine release syndrome, as though right on schedule, and gave her tocilizumab.

Every day, the nurses would ask her questions and have her write simple sentences on a slip of paper to monitor for neurotoxicity. By the fifth day, her answers changed. She started saying things that were crazy, Johnson explained.

One of Birzer's sentences was guinea pigs eat greens like hay and pizza. Birzer and Johnson owned two guinea pigs, so their diet would be something Birzer normally knew well. So Johnson tried to reason with her: They dont eat pizza. And Birzer replied, They do eat pizza, but only gluten-free.

Johnson remembers being struck by the certainty in her partners delirium. Not only was Birzer confused, she was confident she was not. She was doubling down on everything, Johnson described. She was absolutely sure she was right.

Johnson vividly remembers the evening before the frightening early-morning phone call that brought her rushing back to the hospital. Birzer had said there was no point in Johnson staying overnight; she would only watch her be in pain. So Johnson went home. After she did, the doctor came by multiple times to evaluate Birzer. She was deteriorating and fast. Her speech became more and more garbled. Soon she couldnt name simple objects and didnt know where she was. At 3 a.m., the doctor ordered a head CT to make sure Birzer wasnt bleeding into her brain.

Fortunately, she wasnt. But by 7 a.m. Birzer stopped speaking altogether. Then she seized. Birzers nurse was about to step out of the room when she noticed Birzers arms and legs shaking. Her eyes stared vacantly and she wet the bed. The nurse called a code blue, and a team of more doctors and nurses ran over. Birzer was loaded with high-dose anti-seizure medications through her IV. But she continued to seize. As nurses infused more medications into her IV, a doctor placed a breathing tube down her throat.

Birzers saga poses the big question: Why does CAR-T cause seizures and other neurologic problems? No one seemed to know. My search of the published scientific literature was thin, but one name kept cropping up. So I called her. Juliane Gust, a pediatric neurologist and scientist at Seattle Childrens Hospital, told me her investigations of how CAR-T affects the brain were motivated by her own experiences. When the early CAR-T trials opened at her hospital in 2014, she and her colleagues began getting calls from oncologists about brain toxicities they knew nothing about. Where are the papers? she remembered thinking. There was nothing.

Typically, the brain is protected by a collection of cells aptly named the blood-brain-barrier. But with severe CAR-T neurotoxicity, research suggests, this defense breaks down. Gust explained that spinal taps on these patients show high levels of cytokines floating in the fluid surrounding the spine and brain. Some CAR-T cells circulate in the fluid too, she said, but these numbers do not correlate with sicker patients. CAR-T cells are even seen in the spinal fluid of patients without any symptoms.

What does this mean? Gust interprets it as a patients symptoms having more to do with cytokines than the CAR-T cells. Cytokine release syndrome is the number one risk factor for developing neurotoxicity over the next few days, she said. The mainstay for neurotoxicity is starting steroids as soon as possible. In the beginning we didnt manage as aggressively. We were worried about impairing the function of the CAR-T, she added. Now we give steroids right away.

But the steroids dont always work. Several doses of steroids didnt prevent Birzer from seizing. The morning after Johnsons alarming phone call, after the meeting at the hospital when she learned what had happened, a chaplain walked her from the conference room to the ICU. The first day, Johnson sat by her partners bedside while Birzer remained unconscious. By the next evening, she woke up enough to breathe on her own. The doctors removed her breathing tube, and Birzer looked around. She had no idea who she was or where she was.

Birzer was like a newborn baby, confused and sometimes frightened by her surroundings. She frequently looked like she was about to say something, but she couldnt find the words despite the nurses and Johnsons encouragement. One day she spoke a few words. Eventually she learned her name. A few days later she recognized Johnson. Her life was coming back to her, though she was still suspicious of her reality. She accused the nurses of tricking her, for instance, when they told her Donald Trump was president.

She took cues from the adults around her on whether her actions were appropriate. The best example of this was her I love you phase. One day, she said it to Johnson in the hospital. A few nurses overheard it and commented on how sweet it was. Birzer was pleased with the reaction. So she turned to the nurse: I love you! And the person emptying the trash: I love you! Months later, she was having lunch with a friend who asked, Do you remember when you told me you loved me? Birzer said, Well, I stand by that one.

When she got home, she needed a walker to help with her shakiness on her feet. When recounting her everyday interactions, she would swap in the wrong people, substituting a friend for someone else. She saw bugs that didnt exist. She couldnt hold a spoon or a cup steady. Johnson would try to slow her down, but Birzer was adamant she could eat and drink without help. Then peas would fly in my face, Johnson said.

Patients who experience neurotoxicity fall into one of three categories. The majority are impaired but then return to normal without long-term damage. A devastating handful, less than 1 percent, develop severe brain swelling and die. The rest fall into a minority that have lingering problems even months out. These are usually struggles to think up the right word, trouble concentrating, and weakness, often requiring long courses of rehabilitation and extra help at home.

As Birzer told me about her months of rehab, I thought how she did seem to fall somewhere in the middle among the patients Ive treated. On one end of the spectrum was the rancher who remained profoundly weak a year after his infusion. Before CAR-T, he walked across his ranch without issue; six months later, he needed a walker. Even with it, he fell on a near weekly basis. On the other end was the retired teacher who couldnt speak for a week she would look around her ICU room and move her mouth as though trying her hardest and then woke up as though nothing happened. She left the hospital and instantly resumed her life, which included a recent trip across the country. In hindsight, I remember how we worried more about giving the therapy to the teacher than the rancher, as she seemed frailer. Outcomes like theirs leave me with a familiar humility I keep learning in new ways as a doctor: We often cant predict how a patient will do. Our instincts can be just plain wrong.

I asked Gust if we have data to predict who will land in which group. While we can point to some risk factors higher burdens of cancer, baseline cognitive problems before therapy the individual patient tells you nothing, she confirmed.

So we wait.

Doctors like me who specialize in cancer regularly field heart-wrenching questions from patients. They have read about CAR-T in the news, and now they want to know: What about me? What about my cancer?

So, who gets CAR-T? That leads to the tougher question who doesnt? That depends on the type of cancer and whether their insurance can pay.

CAR-T is approved to treat certain leukemias and lymphomas that come from the blood and bone marrow. Since the initial approval, researchers have also set up new CAR-T trials for all sorts of solid tumors from lung cancer to kidney cancer to sarcoma. But progress has been slow. While some promising findings are coming from the lab and in small numbers of patients on early phase trials, nothing is yet approved in humans. The remarkable responses occurring in blood cancers just werent happening in solid tumors.

Cancer is one word, but its not one disease. Its easier to prove why something works when it works than show why it doesnt work when it doesnt work, said Saar Gill, a hematologist and scientist at the University of Pennsylvania who co-founded a company called Carisma Therapeutics using CAR-T technology against solid tumors. That was his short answer, at least. The longer answer to why CAR-T hasnt worked in solid cancers involves what Gill believes are two main barriers. First, its a trafficking problem. Leukemia cells tend to be easier targets; they bob through the bloodstream like buoys in an ocean. Solid tumors are more like trash islands. The cancer cells stick together and grow an assortment of supporting structures to hold the mound together. The first problem for CAR-T is that the T-cells may not be able to penetrate the islands. Then, even if the T-cells make it in, theyre faced with a hostile environment and will likely die before they can work.

At Carisma, Gill and his colleagues look to get around these obstacles though a different immune cell called the macrophage. T-cells are not the only players of the immune system, after all. Macrophages are gluttonous cells that recognize invaders and engulf them for destruction. But studies have shown they cluster in solid tumors in a way T-cells dont. Gill hopes genetically engineered macrophages can be the stowaways that sneak into solid tumor and attack from the inside out.

Another big challenge, even for leukemias and lymphomas, is resistance, where the cancers learn to survive the CAR-T infusion. While many patients in the trials achieved remission after a month, we now have two years worth of data and the outlook isnt as rosy. For lymphoma, that number is closer to 40 percent. Patients celebrating cures initially are relapsing later. Why?

The CAR-T cells we use target a specific protein on cancer cells. But if the cancer no longer expresses that protein, that can be a big problem, and were finding thats exactly whats happening. Through blood testing, we see that many patients who relapse lose the target.

Researchers are trying to regain the upper hand by designing CAR-Ts to target more than one receptor. Its an old idea in a new frame: An arms race between our medicines and the illnesses that can evolve to evade them. Too much medical precision in these cases is actually not what we want, as it makes it easier for cancer to pinpoint whats after it and develop an escape route. So, the reasoning goes, target multiple pieces at once. Confuse the cancer.

Then theres the other dreaded c word: Cost. Novartis Kymriah runs up to $475,000 while Kite Pharmas Yescarta is $373,000. That covers manufacturing and infusion. Not included is the minimum one-week hospital stay or any complications.

They are daunting numbers. Some limitations on health care we accept maybe the patients are too sick; maybe they have the wrong disease. The wrong cost is not one we as a society look kindly upon. And drug companies shy away from that kind of attention.

Cost origins in medicine are notoriously murky. Novartis, confident in its technology, made an offer to offset the scrutiny in CAR-T. If the treatment didnt work after one month, the company said it wouldnt send a bill.

Not everyone agrees that cost is an issue. Gill, for example, believes the concern is over-hyped. Its not a major issue, he told me over the phone. Look, of course [with] health care in this country, if you dont have insurance, then youre screwed. That is no different when it comes to CAR-T as it is for anything else, he said. The cost conversation must also put CAR-T in context. Gill went on to list what these patients would be doing otherwise months of chemotherapy, bone marrow transplants, hospital stays for cancer-associated complications and the associated loss of income as patients and caregivers miss work. These could add up to far more than a one-time CAR-T infusion. A bone marrow transplant, for example, can cost from $100,000 to more than $300,000. The cancer-fighting drug blinatumomab, also used to treat relapsed leukemia, costs $178,000 a year. Any discussion of cost is completely irresponsible without weighing the other side of the equation, Gill said.

How the system will get on board is another question. Logistics will be an issue, Gill conceded. The first national Medicare policy for covering CAR-T was announced in August 2019, two years after the first product was approved. The Centers for Medicare and Medicaid Services has offered to reimburse a set rate for CAR T-cell infusion, and while this figure was recently raised, it remains less than the total cost. Despite the expansion of medical uses, at some centers referrals for CAR-T are dropping as hospitals worry its a net loss. And while most commercial insurers are covering CAR-T therapies, companies less accustomed to handling complex therapies can postpone approval. Ironically, the patients considering CAR-T are the ones for whom the window for treatment is narrowest. A delay of even a few weeks can mean the difference between a cure and hospice.

This, of course, poses a big problem. A breakthrough technology is only as good as its access. A major selling point of CAR-T besides the efficacy is its ease. Its a one-and-done treatment. Engineered T-cells are intended to live indefinitely, constantly on the alert if cancer tries to come back. Compare that to chemotherapy or immunotherapy, which is months of infusions or a pill taken indefinitely. CAR-T is more akin to surgery: Cut it out, pay the entire cost upfront, and youre done.

Birzer was lucky in this respect. I asked her and Johnson if cost had factored into their decision to try CAR-T. They looked at each other. It wasnt an issue, said Johnson. They remembered getting a statement in the mail for a large sum when they got home. But Birzer had good insurance. She didnt pay a cent.=

One year after Birzers infusion, I met her and Johnson at a coffee shop near their home in San Francisco. They had saved a table. Johnson had a newspaper open. Birzer already had her coffee, and I noticed her hand trembling as she brought it to her mouth. She described how she still struggles to find exactly the right words. She sometimes flings peas. But shes mostly back to normal, living her everyday life. She has even returned to her passion, performing stand-up comedy, though she admitted that at least for general audiences: My jokes about cancer didnt kill.

People handed a devastating diagnosis dont spend most of their time dying. They are living, but with a heightened awareness for a timeline the rest of us take for granted. They sip coffee, enjoy their hobbies, and read the news while also getting their affairs in order and staying on the lookout, constantly, for the next treatment that could save them.

Hoping for a miracle while preparing to die are mutually compatible ideas. Many of my patients have become accustomed to living somewhere in that limbo. It is humbling to witness. They hold out hope for a plan A, however unlikely it may be, while also adjusting to the reality of a plan B. They live their lives; and they live in uncertainty.

I see patients in various stages of this limbo. In clinic, I met a man with multiple myeloma six months after a CAR-T trial that supposedly cured him. He came in with a big smile but then quietly began praying when it was time to view PET results. He asked how the other patients on the trial were doing, and I shared the stats. While percentages dont say anything about an individual experience, theyre also all patients have to go on. When someone on the same treatment dies, its shattering for everyone. Was one person the exception, or a harbinger anothers fate? Who is the outlier?

I look at these patients and think a sober truth: Before CAR-T, all would likely die within six months. Now, imagine taking 40 percent and curing them. Sure, a naysayer might point out, its only 40 percent. Whats the hype if most still succumb to their cancer? But there was nothing close to that before CAR-T. I agree with how Gill described it: I think CAR-T cells are like chemotherapy in the 1950s. Theyre not better than chemotherapy theyre just different. For an adversary as tough as cancer, well take any tool we can get.

There remain many questions. Can we use CAR-T earlier in a cancers course? Lessen the side effects? Overcome resistance? Streamline manufacturing and reimbursement? Will it work in other cancers? Patients will sign up to answer.

For now, Birzer seems to be in the lucky 40 percent. Her one-year PET scan showed no cancer. I thought of our last coffee meeting, where I had asked if she ever worried she wouldnt return to normal. She didnt even pause. If youre not dead, she said, youre winning.

This article was originally published on Undark. Read the original article.

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Behind the Scenes of a Radical New Cancer Cure - Scientific American

Genentech’s Gazyva (obinutuzumab), in Combination With Standard of Care, More Than Doubles the Percentage of Lupus Nephritis Patients Achieving…

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Genentech, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), today announced data from the Phase II NOBILITY study, investigating the safety and efficacy of Gazyva (obinutuzumab) for adults with proliferative lupus nephritis. The study met the primary endpoint with Gazyva, in combination with standard of care (mycophenolate mofetil or mycophenolic acid and corticosteroids), demonstrating superiority compared to placebo plus standard of care. Patients treated with Gazyva showed increasing rates of complete renal response (CRR) from week 52 to week 76, with 40% of patients in the Gazyva group achieving CRR, compared to 18% of patients in the placebo group at week 76 (p=0.007). Gazyva additionally met key secondary efficacy endpoints showing improved overall renal response (complete or partial renal responses) and serologic markers of disease activity as compared to placebo. No new safety signals were observed with Gazyva in the study at the time of this analysis. Through week 76, serious adverse events (24% vs. 29% in placebo group) and serious infections (6% vs.18% in placebo group) were not increased with Gazyva. These data will be presented at the 2019 American College of Rheumatology (ACR) Annual Meeting in Atlanta, Georgia, on November 10, 2019 (Abstract 939).

We are very encouraged by the positive results from the NOBILITY study, which suggest that Gazyva may provide a clinically meaningful benefit for adults with proliferative lupus nephritis; a condition for which there is a strong need for more effective and targeted treatment options, said Levi Garraway, M.D., Ph.D., chief medical officer and head of Global Product Development. These results support the continued development of Gazyva for people with lupus nephritis and underscore our longstanding commitment to pursue new treatment options that may benefit the lupus community.

Lupus nephritis is a severe and potentially life-threatening manifestation of systemic lupus erythematosus resulting from inflammation of the kidneys, with proliferative lupus nephritis being the most severe form and associated with high-risk of end-stage renal disease and death. In September 2019, the U.S. Food and Drug Administration (FDA) granted Breakthrough Therapy Designation to Gazyva for adults with lupus nephritis based on the Phase II NOBILITY study data. Genentech will initiate a Phase III study for Gazyva in lupus nephritis in 2020.

Phase II data from the NOBILITY study was also presented as a late-breaking oral presentation at the American Society of Nephrologys (ASN) Kidney Week 2019 in Washington, DC, on November 8, 2019 (Abstract FR-OR136).

An audio webcast for analysts and investors on the Phase II NOBILITY study data will be held on Tuesday, November 12, 2019 from 4:30-5:30 p.m. CET / 10:30-11:30 a.m. ET. Further details are available here.

Lupus nephritis overwhelmingly impacts women, particularly young women of color. About 90% of those diagnosed with lupus are women, and African American, Hispanic, Native American and Asian American women are two to three times more likely than Caucasian women to get lupus. Genentech is committed to addressing barriers to clinical trial participation and advancing inclusive research to create new standards for clinical studies. Genentech is taking action to recruit a broader, more diverse population of participants into clinical trials, including diseases such as lupus nephritis, to ensure clinical trial participants more closely reflect those impacted by the disease for which a medicine is being studied. To learn more about Genentechs efforts in this area, please visit

About the NOBILITY Study

The Phase II, randomized, double-blind, placebo-controlled, multi-center study, NOBILITY (NCT02550652), compared the safety and efficacy of Gazyva, combined with mycophenolate mofetil (MMF) or mycophenolic acid (MPA) and corticosteroids, to placebo, combined with MMF or MPA and corticosteroids, in adult patients with ISN/RPS 2003 class III or IV proliferative lupus nephritis. The study enrolled 125 people who were randomized to receive Gazyva or placebo infusions on days 1, 15, 168, and 182. The primary endpoint was the proportion of participants who achieved a protocol-defined complete renal response (CRR) at 52 weeks. Key secondary endpoints included overall renal responses (complete or partial renal response) and serologic markers of disease activity, as compared to placebo. Patients were followed in a blinded fashion through week 104, and patients with persistent B-cell depletion are being followed for safety and continued B-cell measurements.

About Lupus Nephritis

Lupus nephritis is a severe and potentially life-threatening disorder of the kidneys. Lupus nephritis is one of the most severe manifestations of systemic lupus erythematosus (SLE), an autoimmune disease where a person's own immune system attacks healthy cells and organs, including, in the case of lupus nephritis, the kidneys. This causes kidney inflammation and may lead to blood and/or protein in the urine, high blood pressure, poor kidney function, or kidney failure. An estimated 1.5 million Americans are affected by lupus, with approximately 70% of cases representing SLE. Up to 60% of people with SLE will develop lupus nephritis, and up to 25% of people with the condition develop end-stage renal disease. Lupus overwhelmingly impacts women, particularly young women of color. About 90% of those diagnosed with lupus are women, and African American, Hispanic, Native American and Asian American women are two to three times more likely than Caucasian women to get lupus. Currently, there is no cure for lupus or lupus nephritis.

About Gazyva

Gazyva is an engineered monoclonal antibody designed to attach to CD20, a protein found only on certain types of B-cells. It is thought to work by attacking targeted cells both directly and together with the body's immune system. Gazyva is part of a collaboration between Genentech and Biogen. Combination studies investigating Gazyva with other approved or investigational medicines, including cancer immunotherapies and small molecule inhibitors, are underway across a range of blood cancers.

Gazyva Indications

Gazyva (obinutuzumab) is a prescription medicine used:

Important Safety Information

The most important safety information patients should know about Gazyva

Patients must tell their doctor right away about any side effect they experience. Gazyva can cause side effects that can become serious or life-threatening, including:

Who should not receive Gazyva:

Patients should NOT receive Gazyva if they have had an allergic reaction (e.g., anaphylaxis or serum sickness) to Gazyva. Patients must tell their healthcare provider if they have had an allergic reaction to obinutuzumab or any other ingredients in Gazyva in the past.

Additional possible serious side effects of Gazyva:

Patients must tell their doctor right away about any side effect they experience. Gazyva can cause side effects that may become severe or life threatening, including:

The most common side effects of Gazyva in CLL were infusion reactions, low white blood cell counts, low platelet counts, low red blood cell counts, fever, cough, nausea, and diarrhea.

The safety of Gazyva was evaluated based on 392 patients with relapsed or refractory NHL, including FL (81%), small lymphocytic lymphoma (SLL) and marginal zone lymphoma (MZL) (a disease for which Gazyva is not indicated), who did not respond to or progressed within six months of treatment with rituximab product or a rituximab product-containing regimen. In patients with follicular lymphoma, the profile of side effects that were seen were consistent with the overall population who had NHL. The most common side effects of Gazyva were infusion reactions, low white blood cell counts, nausea, fatigue, cough, diarrhea, constipation, fever, low platelet counts, vomiting, upper respiratory tract infection, decreased appetite, joint or muscle pain, sinusitis, low red blood cell counts, general weakness and urinary tract infection.

A randomized, open-label multicenter trial (GALLIUM) evaluated the safety of Gazyva as compared to rituximab product in 1,385 patients with previously untreated follicular lymphoma (86%) or marginal zone lymphoma (14%). The most common side effects of Gazyva were infusion reactions, low white blood cell count, upper respiratory tract infection, cough, constipation and diarrhea.

Before receiving Gazyva, patients should talk to their doctor about:

Patients should tell their doctor about any side effects.

These are not all of the possible side effects of Gazyva. For more information, patients should ask their doctor or pharmacist.

Gazyva is available by prescription only.

Report side effects to the FDA at (800) FDA-1088, or Report side effects to Genentech at (888) 835-2555.

Please visit for the Gazyva full Prescribing Information, including BOXED WARNINGS, for additional Important Safety Information.

About Genentech

Founded more than 40 years ago, Genentech is a leading biotechnology company that discovers, develops, manufactures and commercializes medicines to treat patients with serious and life-threatening medical conditions. The company, a member of the Roche Group, has headquarters in South San Francisco, California. For additional information about the company, please visit

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Genentech's Gazyva (obinutuzumab), in Combination With Standard of Care, More Than Doubles the Percentage of Lupus Nephritis Patients Achieving...

Protecting your sight: What you need to know – WNDU-TV

Your vision may change as you get older, but it can also change much sooner than you think if you are not careful.

These are some ways to keep your eyes seeing longer.

From looking at TV to looking outside at nature, your eyes focus on 50 different objects per second. But your eyes aren't perfect; they can run into problems, for example, if you stare at your phone too long.

"That's high-energy visible light, but it's harmful, and that's what causes the digital eye strain," Florida ophthalmologist Dr. Alan Mendelsohn said.

Experts say if you feel weary, just take a break. If you are not careful, this could lead to red eyes and possibly pink eye.

"Vision becomes blurry, eyes become fatigued, sometimes red. It's very frequent to start getting headaches," Mendelsohn said.

To reduce the irritation, take a cool or warm towel to your eyes.

But not every cause is so easily fixed. Lazy eye, which causes vision to be weaker, requires surgery, and so does uveitis, which causes inflammation in the middle layer of your eye and cataracts.

"It's almost like having a stone inside your eye, and breaking that up sometimes requires a lot of energy. That energy is not good to the eye," said Dr. Sean Lanchulev, a New York eye and ear doctor.

If you don't take care of cataracts, that could lead to night blindness.

Finally, watch out for the sun. Not protecting your eyes could lead to excess tearing or floaters, which could be a sign of retinal detachment. So, wear those sunglasses for style and protection.

Contact wearers, beware! Do not wet them in your mouth, as it could lead to infection, and be sure that they fit properly to protect your eyes from being scratched.


BACKGROUND: Around 1.3 billion people around the world live with some form of distance or near vision impairment. Regarding distance vision, 188.5 million have mild vision impairment, 217 million have moderate to severe vision impairment, and 36 million people are blind. When it comes to near vision, 826 million people live with a near vision impairment. Having good ocular health means that vision is at least 20/20 or better with or without correction, and the eyes are disease-free. Ophthalmologists can provide total eye care, from examinations and vision correction to the diagnosis and treatment of disease through medication and surgery. By getting regular exams and discussing family history, your doctor is better able to anticipate, prevent, and treat eye disease. Not wearing your prescribed eyeglasses or contacts will not cause disease of the eye, but it can cause discomfort by eyestrain, headaches, or possibly injury brought on by the lack of safe vision. Constant exposure to ultraviolet rays can result in photochemical eye damage and wearing safety glasses and protective goggles while playing sports or working with hazardous or airborne materials lowers your risk for eye injury, damage to vision, and complete loss of sight. (Source: and

MOST COMMON EYE DISEASES AND TREATMENTS: Macular degeneration is the damage to the central portion of retina, known as the macula. There are no definite signs and symptoms in earlier stages of macular degeneration other than gradual or sudden change in the quality of your vision followed by appearance of straight lines as distorted. There are some prescription medications helpful with macular degeneration in preventing the growth of abnormal blood vessels within the eye. Cataracts are another common eye problem. Symptoms can include blurred, clouded or dim vision; problem seeing at night; and problem seeing through light and glare. Surgery is the only effective treatment, which involves removal and replacement of cloudy lens with an artificial one. Glaucoma is an eye condition where the eye's optic nerve is damaged, getting worse over time. It results in pressure buildup within the fluid in your eye, which can potentially damage the optic nerve responsible for transmitting images to your brain. From eye drops to pills, traditional surgery and laser surgery, or even a combination of these methods, an experienced eye doctor would recommend any treatment if it is focused on preventing vision loss. (Source:

GENE THERAPY FOR EYES: Scientists researching a form of inherited blindness in children called Leber's congenital amaurosis recently had success in a clinical trial that improved the vision of children. The trial was preceded by 30 years of research by Jean Bennett and her husband, Al Maguire, at the Scheie Eye Institute of the University of Pennsylvania, as well as other scientists at Penn and around the world. The gene, which is called RPE65, is injected into the eye, under the retina, in an operating room procedure. It enters retinal cells because it is packaged into a safe virus called adeno-associated virus (AAV). Neither the naturally occurring AAV nor the genetically modified version designed to carry the RPE65 gene into people causes disease. The genetically modified AAV was able to significantly restore vision in blind children, enabling them to complete tasks such as walking through a maze without bumping into soft objects, or catching a ball. The retinal RPE65 gene therapy is a breakthrough that will pave the way for gene therapies treating several other retinal diseases, including age-related macular degeneration (AMD), retinitis pigmentosa, and choroideremia.

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Protecting your sight: What you need to know - WNDU-TV

Researching the Future of Cancer Treatment – Southern Newsroom

Maria Todd would probably prefer that I write this story about well, anyone else but her. When I first interviewed her and began with the warm-up question of how long shes been researching and teaching biology at Southwestern (the answer is 18 years, since 2001), she very quickly shifted focus to talking about a remarkable undergraduate she taught years ago who is now an oncologist. When she publishes her research, she gives credit to every person who sends her samples because naming them as contributors will, she says, help them get grantsand if theyre getting grants, that helps the whole community. If youre lucky enough to be one of her students or have a cup of tea with her, youll notice that she exhibits a generosity of spirit and that quintessential self-deprecatory Anglo-Irish sensibility that immediately draws you in.

And if you didnt know any better, youd almost never guess that this utterly unpretentious, quietly funny, and genuinely delightful individual is an expert in molecular biology and genetics who has made significant contributions to the progress of cancer research.

Dr. Maria ToddThe evolution of a scientist

A born biologist whose first memory is of crawling down the garden path behind her London home and being fascinated by ants and stones and leaves, Todd recalls that her early love of science was the product of curiosity and exploration. I remember as a child just staring at leaves and their veins, and my parents would allow me to dissect plants and flowers with kitchen knives, she says. Id look at a beautiful flower, and then I would dissect it to see what was inside. I had to understand how it worked. Im always appreciative of the beauty of nature, but I want to understand the mechanisms behind it.

With the loving encouragement of her parents, Todd analyzed specimens she discovered in London parks and by the seaside, experimented with chemistry sets at home, and tinkered with gadgets her father would bring home from his work as an electronics engineer. She eventually enrolled as an undergraduate at the University of Sussex, where Todd originally hoped to specialize in conservation biology and ecology, following in the footsteps of her hero, Jane Goodall. But a first-year course on molecular and population genetics captured her imagination. I knew then, at 19 years old, that this would revolutionize medicine, and I was completely seduced, she recounts. It changed my life. So she traded romantic visions of a future examining ferns on the moors of England for a more fitting career at the lab bench studying genetic engineering.

Her studies would continue during a Ph.D. program at Cambridge University, where she lived for one year in the former home of the father of evolutionary thinking. It was amazing to walk into the drawing room and think, This is where Charles Darwin sat and read his newspapers and worked on the Origin of Species, and here am I, a little 20-something geneticist, sitting in the same window seat perhaps where he sat and looking out onto the grounds, she recalls. It was a very magical experience. She then adds with a laugh, The rest of the accommodation was not magical and is best forgotten. Todd admits that she did sometimes feel rather intimidated while at Cambridge, where she was one of only two women in her medical research cohort and worked in a lab flanked by a pair of Nobel Prize winners. Like so many graduate students, she was periodically afflicted with impostor syndrome, wondering whether her admission to the program had been some sort of mistake or even a cruel sociological experiment. But once she began to build a community among other women scientists at the university, her confidence grew, and she knew that she and her colleagues did, in fact, belong.

The importance of good questions

Todd shares stories like these with her Southwestern students, bringing profound empathy to her teaching and mentorship of students. Most of my time is spent reassuring students, reminding them that theyre here for a reason, that they are good enough to be here, that they will excel here, that they are making a really valuable contribution to this community of learning, that we want them here, [and] that were learning from them just as they learn from us, she says. I always encourage students to ask questions and to share their ideas because their ideas might be the next great breakthrough. Its this approach to teaching that has understandably earned Todd multiple honors throughout her years at SU, including theExemplary Teaching Award from the Board of Higher Education and Ministry of the United Methodist Church and the Southwestern University Teaching Award.

As one might expect of the limelight-shy biology professor, Todd prefers that the camera's focus remain on her students, like Shi Solis '20 , rather than on her.Shi Solis 20, one of Todds current research assistants, can attest that her mentor has been a delight to work with. A methods course with Todd inspired the English major to add biology as her second major, but even more than her coursework, Solis feels that the productive failure of trial and error that characterizes any laboratory setting has really expanded her understanding of biology. Working with Dr. Todd is the best. Shes an angel, Solis remarks. I feel like we came in, and we werent super prepared in what it was like to do research, but shes the best teacher. Even if we dont know anything, she makes us feel that this is a learning environmentthat every minute in the lab is a learning experience.

Biology major Anthony Seek 20 agrees that the lab experience, even with all its mental hurdles, has been pretty awesome because its pushed him to consider not just the what but also the why of cell biology: I wanted to do this before I came here, and Im really excited I got the opportunity to do this and work with Dr. Todd. Shes amazing. I sat in on one of her classes before I came [to SU], and it was great. Shes the best person to work with.

Todds appreciation for Solis and Seek is conspicuous as she praises them for being such independent thinkers and doers. She says that working with undergraduates is fabulous and lovely because they bring youthful enthusiasm; they bring their curiosity. And something that I think is very special about undergraduates is that they ask questions that are quite basic, fundamental questions, and these are the best questions to ask in science. She explains that as more advanced researchers delve deeper into their fields, they tend to think of more sophisticated, complicated questions. But the best science is when we ask very straightforward questions, and students will do that, kind of pulling me up a little [because] maybe I had made an assumption about something . They also ask questions about mechanisms and cellular processes that really keep me on my toes in terms of staying up to date with the literature. And unlike how labs are often portrayed on television, Todd observes that laboratories are communities; no scientist works in isolation. Were highly collaborative, and were highly social creatures . Our students bring life and heart to the lab.

A common but understudied cancer

When students like Seek and Solis apply to work in Todds lab at Southwestern, they have to be highly conscientious, precise, and detail oriented. Thats because theyll be working with complex instruments and techniques that are difficult to learn and require weeks to months of practice to master, or, conversely, theyll be focusing for long periods on techniques that arent necessarily difficult but can be quite tedious.

Those students must possess physical and mental fortitudenot to mention a sense of respect for their materialsbecause they are working with cancer cells that are older than they are.

Todd and her students are studying uterine cancer, which, according to the nonprofit World Cancer Research Fund International, is the sixth most commonly occurring cancer in women (only breast, colorectal, lung, cervical, and thyroid cancers have higher incidences worldwide). More than 382,000 new cases of uterine cancer were reported in 2018, and approximately 76,000 patients die from the disease each year.

Elliot Hershbergn 18 and Sid Pradeep 17 worked alongside Professor Maria Todd in summer 2016.

Although uterine cancer is the most common gynecological cancer in the U.S., it is, paradoxically, also the least studied compared with ovarian, cervical, vaginal, and vulvar malignancieswhich is just one reason Todd and her longtime collaborator, fellow Southwestern Professor of Biology and Garey Chair in Biology Maria Cuevas, switched their research efforts from breast to uterine cancer several years ago while putting together an application for a National Institutes of Health grant. Todd believes its one of those cancers thats often overlooked by researchers because uterine cancer doesnt have the same advocacy groups that breast and ovarian cancers have enjoyed for the past 15 years. Those cancers have benefited from better research funding and more media coverage, likely because uterine cancer occurs less frequently than breast cancer does (one in 25 women versus one in seven, respectively) and is much easier to treat than ovarian cancer, which is often diagnosed too late to benefit from conventional therapies.

Todd says she and Cuevas were also compelled to refocus their research energies because they found something very startling and very striking: women of all races have about the same incidence of uterine cancer, but the mortality rate for African-American women with uterine cancer is 2-1/2 times that of all other women with the same disease. We were completely blown away, Todd recalls. Why is it that the uterine cancer rate is not higher in African-American women but they die at much higher rates?

Todd and Cuevas knew there were many possible answers: Perhaps African-American women were not being diagnosed early enough because of limited access to healthcare. Maybe cultural distrust between African-American women patientsof all socioeconomic classesand their primarily white male doctors was preventing those women from advocating for their own care. And/or perhaps implicit bias was keeping patients from receiving sufficiently aggressive treatment. But these would be sociological responses and therefore beyond the scope of Todd and Cuevass research. From a biological standpoint, however, the pair could investigate which kinds of uterine cancer African-American women were being diagnosed with: Was it the more treatable endometrial cancer (i.e., malignancy of the lining of the uterus), or was it the more difficult-to-treat myometrial cancer (i.e., malignancy of the muscular wall of the uterus)? And if they were to look at tumor samples from women across racial identities, would they see differences in the ability of cancer cells to stay adhered to one another, or would those cells break off more frequently, making it easier for tumors to migrate through the bloodstream and spread (i.e., metastasize) to a different part of the body?

From cancer research to (better) cancer treatment

To help answer such questions about what causes cancer to spread throughout the body, Todd and her undergraduate research assistantspositions made possible by her funding as Southwesterns first Ed and Suzanne Morrow Ellis Term Chairwork with immortalized uterine tumors from women. That is, normal cells eventually stop dividing, grow old, and die; cancer cells, however, have short-circuited that aging process, so they can grow and replicate in perpetuity. So when patients have a tumor removed, researchers can actually continue to grow and examine immortal cell lines derived from that tumor. Todd says, I say that to the students: Just think about what it is that youre handling here in these flasks. These are cancer cells that are immortal, and they will outlive us and your children and your grandchildren. So we do treat them with a certain amount of reverence, actually.

With all due reverence, Solis, Seek, and Todd are studying claudin-3 and claudin-4, just two members of a family of 24 tight-junction proteins that create watertight seals between adjacent cells and help hold those cells together. Although one might expect that having high levels of something called tight-junction proteins would mean that the connections between cells would be even stronger, it turns out that claudin-3 and -4 are abnormally elevated in uterine cancer cells, and that disproportion of proteins actually makes it easier for malignant cells to shear off, spread to another organ, and grow secondary tumors. Todd believes that down the road, if she and her fellow researchers can correlate high levels of claudin-3 and -4 with certain stages of uterine cancer, that correlation can prove useful not just as a diagnostic marker but also as a prognostic one. That is, a doctor could tell a patient how much cancer is in the body and better predict how the cancer will behave, including how it will respond to treatment.

Anthony Seek 20, one of Todd's current research assistants, looks forward to applying his SU lab experience to a future career in pediatric oncology.

But most exciting to meand something that my lab and my students are working onare the possible treatment applications, Todd shares. She and her collaborators have been able to use a molecule known as small interference RNA to decrease the excessive amounts of claudin-3 and -4 to normal levels, which prevents the uterine cancer cells from migrating or moving across membranes as quickly. The hope, then, is that by decreasing the levels of these proteins, scientists will eventually be able to stop uterine tumors from metastasizing.

Thats obviously my goal as a cancer researcher and I think the goal of most people who go into cancer research, Todd says. We might not see those clinical applications in our working lives, possibly not even in our lives, but we build on one anothers work. Shes hopeful that gene therapies similar to those she and her students are experimenting with will one day complement conventional cancer treatments such as surgery, chemotherapy, and radiation. Or rather, given the physical and emotional trauma of surgery and the side effects and risks of chemotherapy and radiationwhich can damage DNA, have adverse effects on neighboring healthy cells, and lead to mutations that cause secondary cancersTodd adds, Im hopeful that in our childrens generation, gene therapy will be part of the treatment program, and by the time they have children, gene therapy will be the major tailored form of therapy and we will eliminate chemotherapy drugs or radiation altogether.

In April 2020, Todd and Cuevas will present their research at the annual meeting of the American Association for Cancer Research, where the theme will be Turning Science into Lifesaving Cure. Todd looks forward to sharing their latest findings with their scholarly colleagues, and shes thankful for her Ellis Term Chair funding because it will support her travel to the conference and because it means that the research we can do at Southwestern is comparable to that at a large R1 [research] institution, and were really excited about that. But she and Cuevas are also dedicated to translating their knowledge in ways that will benefit their students beyond academic or professional development. In a biology class, its not just about preparing for medical school or graduate school or teaching or industry; its about learning about our own health, our own journey, and how our bodies change on a continuous basis, Todd explains. Its just so important from an intellectual standpoint to understand the structures, the functions, and the mechanisms. But its also important from a very human perspective to understand the emotional component, the biological component, and the psychological component that contribute to our own well-being.

Read more:
Researching the Future of Cancer Treatment - Southern Newsroom

Physician Goes Behind The Scenes To Write Compelling Story About Treating Patients With New Cancer Gene Therapy – Kaiser Health News

Ilana Yurkiewicz, a physician and medical journalist at Stanford University, explains why CAR-T is only used in patients with certain cancers and tries to answer why they havent yet been shown to work against solid tumors in an UnDark article. Public health news is on breast cancer tests, fecal matter transplants, Zantac recalls, white male life expectancy, skin rashes, growing up with HIV, a retracted HIV study, live-streaming a mammogram, and how to get a good night's sleep, as well.

The Washington Post:Science Author Digs Into The Story About A Revolutionary Cancer Treatment Used In ImmunotherapyIn 2017, CAR-T therapy made waves as the first gene therapy to be approved by the Food and Drug Administration. In a fascinating article for Undark, Ilana Yurkiewicz, a physician at Stanford University, plunges into the fraught history and future of a cancer treatment thats as radical as it is risky. Unlike chemotherapy or radiation, which attack cancer directly, CAR-T engineers patients immune cells so they can do it themselves. (Blakemore, 11/2)

Bloomberg:Blood Test To Detect Breast Cancer Could Be Five Years AwayA blood test that may be able to detect breast cancer up to five years before symptoms develop could be available by 2025 if development is fully funded, U.K. researchers said. Doctors at the Centre of Excellence for Autoimmunity in Cancer at the University of Nottingham compared blood samples from 90 patients being treated for breast cancer with the same number from a control group without the disease to measure the bodys immune response to substances produced by tumor cells. Theyre now testing samples from 800 patients for nine markers and they expect the accuracy of the test to improve. (Marley, 11/3)

Stat:FDA To Consider New Evidence, Risks Behind Fecal Matter TransplantsOn Monday, the Food and Drug Administration will host its first formal discussion about fecal microbiome transplants in years less than a week after a paper in the New England Journal of Medicine disclosed new details about the first death ever conclusively linked to the procedure, often abbreviated to FMT. The Monday meeting, which will be happening at the FDAs headquarters in White Oak, Md., will cover the safety and effectiveness of FMT as a treatment for repeated (and potentially fatal infections) of Clostridium difficile bacteria. (Sheridan, 11/1)

Stat:FDA: Zantac Does Not Form A Carcinogen, But Some Pills Should Be RecalledAfter running simulated testing, the Food and Drug Administration says it has not found evidence that Zantac and similar heartburn medicines form a possible carcinogen in patient stomachs or small intestines. Nonetheless, the agency also indicated some of the medicines contain higher than acceptable levels of NDMA, and asked manufacturers to voluntarily withdraw those pills. The move marks the first time the FDA has suggested drug makers should recall their heartburn medicines, which are called ranitidines, after opening a probe several weeks ago. (Silverman, 11/1)

CBS News:Life Expectancy For American Men Drops For A Third YearLife expectancy for American men dropped for a third consecutive year, with the National Center for Health Statistics citing an increase in so-called "deaths of despair," such as the rise in drug overdose deaths.The average lifespan of men in the U.S. dipped to 76.1 years in 2017 (the latest data available), amounting to a four-month decline in life expectancy since 2014. The findings shed additional light on economic research into the sharp increase in recent years in deaths from overdoses and suicides among white men with less education. (Picchi, 10/31)

NPR:Rashes Can Look Very Different On Different Shades Of SkinWhen Ellen Buchanan Weiss' son was about a year old, he broke out in a rash little bumps that appeared to be hives. So Buchanan Weiss did what a lot of new parents do: She turned to the Internet to find images that matched the rash she was seeing on her little boy. "I'm trying to figure out would I be paranoid if I went to the doctor at this point? Is that a reasonable thing to do? So I started googling it," says Buchanan Weiss, who lives with her family in Raleigh, N.C. (Prichep, 11/4)

The New York Times:Armed With A New Laptop, He Is On A Path To A DegreeWhen he was growing up, Warren Williams wanted nothing more than to play baseball and watch Scooby-Doo. I just wanted to be normal, like other kids, he said. But his health often took the joy out of his childhood. Mr. Williams, 26, was born with H.I.V. One of his earliest memories is from when he was 4: A mass had developed in his chest and he was rushed to a hospital to have open-heart surgery. The doctors gave him a stuffed Barney the dinosaur to keep by his side on the operating table. (Aridi, 11/3)

The Associated Press:Scientists Retract Study Suggesting Mutation Shortens LifeScientists have retracted a study that appeared to show people may live shortened lives if they carry a DNA mutation that reduces their chance of HIV infection. The study focused on people who carry a specific mutation in both copies of a gene called CCR5. It was published in June in the journal Nature Medicine and covered by news outlets including The Associated Press. (11/1)

The Washington Post:Ali Meyer Records Breast Cancer Diagnosis Live On Facebook For KFOR NewsAli Meyer live-streamed her first mammogram with other women in mind. The veteran journalist was wary of making herself the center of the story, she remembers, but she wanted to remind people to schedule their own appointments so they could catch breast cancer early. Then a nurse came in to say the radiologist would prefer to see Meyer with the camera off. In private, the doctor told Meyer she would need more imaging. At 40 years old, she realized, she might have cancer. (Knowles, 11/2)

NPR:How To Fall Asleep: These Daytime Habits Will HelpIf turning back the clock an hour for the end of daylight saving time leaves you feeling jangly, imagine the toll that chronic sleep loss can take on your health. The evidence has piled up. We all need good sleep. And our bodies crave regular routine. Without it, we set up ourselves for increased risk of anxiety, depression, weight gain, even dementia. (Aubrey, 11/3)

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Physician Goes Behind The Scenes To Write Compelling Story About Treating Patients With New Cancer Gene Therapy - Kaiser Health News

Humanigen"s abstracts on lenzilumab to be presented at the American Society of Hematology – Proactive Investors USA & Canada

Humanigen is developing a portfolio of cell and gene therapies for the treatment of cancers through its novel GM-CSF gene-knockout platforms

() said Wednesday that two abstracts on its promising key drug candidate lenzilumab will be presented at the upcoming annual meeting of the American Society of Hematology, in Florida.

The Burlingame, California, companys lenzilumab, is a recombinant monoclonal antibody that neutralizes a substance that promotes growth of white blood cells, but is also tied to inflammations that can occur during CAR-T therapies and lead to side effects.

Pre-clinical work shows lenzilumab is effective in preventing the side effects and may make the CAR-T therapies more effective, according to Humanigen.

In a statement, the clinical-stage biopharmaceutical company said the two abstracts are focused on granulocyte-macrophage colony-stimulating factor (GM-CSF) gene knockout and GM-CSF neutralization with lenzilumab, the company's proprietary Humaneered anti-human-GM-CSF immunotherapy.

Both abstracts have been accepted for presentation at the American Society of Hematology on December 9, at the Orange County Convention Center, in Orlando, Florida.

Humanigen said that using a xenograft model for relapsed acute lymphoblastic leukemia (ALL), which is a type of cancer of the blood and bone marrow that affects white blood cells, treatment with GM-CSF k/o CART19 resulted in improved overall survival compared to wildtype CART19.

The lack of myeloid cells in this model pointed to an intrinsic effect of GM-CSF on CAR-T cells, said the company.

"These results strongly indicate that CAR-T cells increase expression of GM-CSF receptor subunits when activated, resulting in modulation of CAR-T function, said Humanigen CEO Durrant.

Collectively, these results illuminate a novel mechanism for a direct modulatory effect of GM-CSF on activated CAR-T cells that helps to explain the improved survival with GM-CSF neutralization or knockout," he added.

Durrant, a medical doctor and MBA who assumed the role of CEO in March 2016, said the results of the company sponsored phase I study reinforce the favorable safety profile of lenzilumab even in patients with chronic myelomonocytic leukemia (CMML), a rare type of blood cancer,who have undergone several cycles of immunosuppressive therapy.

"As with all prior lenzilumab clinical trials, no serious treatment related adverse events were observed," said Durrant.

Throughout the study there were no reported instances of dose limiting toxicities or adverse events grade 3 or higher related to the study drug. Additionally, of four subjects with NRAS mutations at screening, three either achieved clinical benefit or had clinical meaningful bone marrow myeloblast reductions, he added.

Humanigen is developing a portfolio of next-generation cell and gene therapies for the treatment of cancers through its novel GM-CSF neutralization and gene-knockout platforms.

The companys immediate focus is combining FDA-approved and development stage CAR-T therapies with lenzilumab, the companys proprietary anti-human-GM-CSF immunotherapy, which is its lead product candidate.

Contact Uttara Choudhury at[emailprotected]

Follow her onTwitter:@UttaraProactive

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Humanigen"s abstracts on lenzilumab to be presented at the American Society of Hematology - Proactive Investors USA & Canada

New data to be presented at ASH 2019 highlight Sanofi’s commitment to treat challenging blood cancers and rare blood disorders – PRNewswire

CAMBRIDGE, Mass., Nov. 6, 2019 /PRNewswire/ --New clinical data from Sanofi's oncology and rare blood disorders portfolios and pipelines will be featured, including four oral presentations and 18 posters, at the 61st American Society of Hematology (ASH) Annual Meeting & Exposition from December 7-10 in Orlando, FL.

"Blood cancers and rare blood disorders account for some of the most challenging diseases to treat, and patients often have limited therapeutic options," said John Reed, M.D., Ph.D., Global Head of Research and Development at Sanofi. "Drawing upon our deep expertise in hematology, and one of the industry's more robust research and development programs actively working to address numerous hematologic conditions, we are excited to present new data at ASH that we believe demonstrate our commitment to advancing science and improving the lives of patients we serve."

Advancing the understanding of multiple myeloma in difficult-to-treat populationsIsatuximab: In the area of multiple myeloma, analyses from the pivotal ICARIA-MM trial for isatuximab, an investigational anti-CD38 monoclonal antibody, will highlight depth of response and associated long-term outcomes (abstract #3185), health-related quality of life (abstract #1850), and outcomes in an elderly patient population (abstract #1893). The ICARIA-MM clinical trial serves as the basis of a Biologic License Application for isatuximab for the treatment of relapsed/refractory multiple myeloma, which is currently under review by the U.S. Food and Drug Administration with a target action date for a decision of April 30, 2020. A Marketing Authorization Application for isatuximab was also accepted for review by the European Medicines Agency in the second quarter of 2019. Read more about our oncology data at ASH.

Striving to address unmet needs for people with rare blood disorders Cold Agglutinin Disease and Immune Thrombocytopenic Purpura:New analyses of transfusion practices in the U.S. (abstract #3559) and mortality risks associated with cold agglutinin disease (CAD) (abstract #4790) will underscore the seriousness of this rare and debilitating hemolytic anemia. Sutimlimab, an investigational monoclonal antibody designed to inhibit C1s, is being investigated as a potential first-in-class treatment for CAD in two pivotal Phase 3 studies. An oral presentation on sutimlimab will also explore its potential in immune thrombocytopenic purpura (ITP) patients without adequate response to two or more prior therapies (abstract #898). ITP represents a second indication being investigated for sutimlimab.

Hemophilia:Final data from a Phase 1 study (abstract #625) of BIVV001 (rFVIIIFc-VWF-XTEN) evaluating the safety and pharmacokinetics of repeated dosing will be shared in an oral presentation. BIVV001 is the first and only investigational von Willebrand (VWF)-independent factor VIII therapy that is designed to provide high sustained factor activity and extend protection from bleeds with once weekly dosing for people with hemophilia A. A Phase 3 study of BIVV001 is expected to be initiated by year-end. BIVV001 is being developed in collaboration with Sobi.

Additional analysis of the ongoing Phase 2 open-label extension study (abstract #1138) of fitusiran, a potential first-in-class, once-monthly, fixed-dose subcutaneously administered RNA interference therapeutic targeting antithrombin (AT) will also be shared. Fitusiran is the first and only monthly investigational therapy in Phase 3 development for the treatment of both hemophilia A and B, with and without inhibitors.

Hemoglobinopathies:New pre-clinical and clinical research on our pipeline of investigational, zinc finger nuclease ex vivo gene-edited cell therapies for sickle cell disease (BIVV003) and beta thalassemia (ST-400) will be shared in multiple presentations. BIVV003 and ST-400 are being developed in collaboration with Sangamo Therapeutics, Inc.

Acquired Thrombotic Thrombocytopenic Purpura;Additional presentations include results from studies on Cablivi (caplacizumab-yhdp), our first-in-class approved treatment, in combination with plasma exchange and immunosuppressive therapy, for adult patients with acquired thrombotic thrombocytopenic purpura (aTTP).

Oncology Poster Presentations:


Efficacy of Isatuximab with Pomalidomide and Dexamethasone in Elderly Patients with Relapsed/Refractory Multiple Myeloma: ICARIA-MM Subgroup Analysis (Dr. Fredrik Schjesvold; Saturday, December 7, 2019: Poster Presentation, 5:30-7:30 p.m. ET)

Depth of Response and Response Kinetics in the ICARIA-MM Study of Isatuximab/Pomalidomide/Dexamethasone in Relapsed/Refractory Multiple Myeloma (Dr. Cyrille Hulin; Sunday, December 8, 2019: Poster Presentation, 6:00-8:00 p.m. ET)

Health-Related Quality of Life in Patients with Relapsed/Refractory Multiple Myeloma Treated with Isatuximab plus Pomalidomide and Dexamethasone: ICARIA-MM Study (Katherine Houghton; Saturday, December 7, 2019: Poster Presentation, 5:30-7:30 p.m. ET)

Exposure-response Analyses and Disease Modeling for Selection and Confirmation of Optimal Dosing Regimen of Isatuximab in Combination Treatment in Patients with Multiple Myeloma (Dr. Fatiha Rachedi; Saturday, December 7, 2019: Poster Presentation, 5:30-7:30 p.m. ET)

The Relationship Between Baseline Biomarkers and Efficacy of Isatuximab in Combination with Pomalidomide and Dexamethasone in RRMM: Insights from Phase 1 and Phase 3 studies (Dr. Paul Richardson; Sunday, December 8, 2019: Poster Presentation, 6:00-8:00 p.m. ET)

Evaluating Isatuximab Interference with Monoclonal Protein Detection By Immuno-Capture and Liquid Chromatography Coupled to High Resolution Mass Spectrometry in the Pivotal Phase 3 Multiple Myeloma Trial, ICARIAMM (Dr. Greg Finn; Sunday, December 8, 2019: Poster Presentation, 6:00-8:00 p.m. ET)

Rare Blood Disorders Oral and Poster Presentations:

Cold Agglutinin Disease and Immune Thrombocytopenic Purpura

Inhibition of the Classical Pathway of Complement With Sutimlimab in Chronic Immune Thrombocytopenic Purpura Patients Without Adequate Response to Two or More Prior Therapies - #898 - Monday, December 9, 2019,6:15 PM 7:45 PM(ET) Oral Presentation - Room W307

Cold Agglutinin Disease Transfusion Practices in the United States: An Electronic Medical RecordBased Analysis- #3559 - Monday, December 9, 2019, 6:00 PM 8:00 PM (ET)

Mortality Among Patients With Cold Agglutinin Disease in the United States: An Electronic Medical Record (EMR)Based Analysis - #4790 (abstract only)


Phase 1 Repeat Dosing with BIVV001: The First Investigational Factor VIII Product to Break through the Von Willebrand FactorImposed Half-Life Ceiling - #625 Monday, December 9, 2019 10:30 AM 12:00 PM (ET) - Oral presentation - Room W415A

Cryo-EM Structure of BIVV001 Reveals Coagulation Factor VIII-Von Willebrand Factor D'D3 Interaction Mode- #94- Saturday, December 7, 2019, 9:30 AM 11:00 AM (ET) - Oral presentation Room W414AB

Fitusiran, an RNAi Therapeutic Targeting Antithrombin to Restore Hemostatic Balance in Patients with Hemophilia A or B with or without Inhibitors: Management of Acute Bleeding Events #1138 - Saturday, December 7, 2019, 5:30 PM - 7:30 PM(ET)

Patients' and Caregivers' Preferences for Different Hemophilia A Treatment Attributes- #2122 - Saturday, December 7, 2019, 5:30 PM - 7:30 PM (ET)

Acquired Thrombotic Thrombocytopenic Purpura

Safety of Caplacizumab in Patients Without Documented Severe ADAMTS13 Deficiency During the HERCULES Study- #1093 - Saturday, December 7, 2019, 5:30 PM 7:30 PM (ET)

Efficacy of Caplacizumab in Patients with aTTP in the HERCULES Study According to Baseline Disease Severity#2366 - Sunday, December 8, 2019, 6:00 PM - 8:00 PM (ET)

Efficacy of Caplacizumab in Patients with aTTP in the HERCULES Study According to Initial Immunosuppression Regimen- #2365 -Sunday, December 8, 2019, 6:00 PM 8:00 PM (ET)

Narratives of Patients with Fatal Outcomes During the Phase 2 TITAN and Phase 3 HERCULES Studies - #4908 (abstract only)

Sickle Cell Disease and Beta Thalassemia

Genetic Activation of NRF2 By KEAP1 Inhibition Induces Fetal Hemoglobin Expression and Triggers Anti-Oxidant Stress Response in Erythroid Cells- #210 - Saturday, December 7, 2019, 2:00 PM 3:30 PM (ET) Oral Presentation Room W414B

Zinc Finger Nuclease-Mediated Disruption of the BCL11A Erythroid Enhancer Results in Enriched Biallelic Editing, increased Fetal Hemoglobin, and Reduced Sickling in Erythroid Cells Derived from Sickle Cell Disease Patients- #974 - Saturday, December 7, 2019, 5:30 PM 7:30 PM (ET) Joint with Sangamo

MetAP2 Inhibition Modifies Hemoglobin S (HbS) to Delay Polymerization and Improve Blood Flow in Sickle Cell Disease- #2260 - Sunday, December 8, 2019, 6:00 PM 8:00 PM (ET)

Differential Efficacy of Anti-Sickling and Anti-Inflammatory Mechanisms in a Fluorescent Intravital Microscopy Dorsal Skinfold Vaso-occlusion Model in Sickle Cell Disease Townes Mice, #2264 - Sunday, December 8, 2019, 6:00 PM 8:00 PM (ET)

Characterization of a genetically engineered HUDEP2 cell line harboring a sickle cell disease mutation as a potential research tool for preclinical Sickle Cell Disease Drug Discovery- #3559 - Monday, December 9, 2019, 6:00 PM 8:00 PM (ET)

Preliminary Results of a Phase 1/2 Clinical Study of Zinc Finger Nuclease-Mediated Editing of BCL11A in Autologous Hematopoietic Stem Cells for Transfusion-Dependent Beta Thalassemia #3544 Monday, December 9, 2019, 6:00 8:00 PM (ET) Joint with Sangamo

Identification of Novel Variants Associated with Fetal Hemoglobin Levels in Healthy Donors (the INTERVAL study) - #2243 - Sunday, December 8, 201, 6:00 PM - 8:00 PM (ET)

Rare Disease Presentations:

Gaucher Disease

Response to Oral Eliglustat in Adults with Gaucher Disease Type 1: Results from 4 Completed Clinical Trials - #4859 (abstract only)

About isatuximabIsatuximab, an investigational anti-CD38 monoclonal antibody, targets a specific epitope on the CD38 receptor and is designed to trigger multiple, mechanisms of action that are believed to directly promote programmed tumor cell death (apoptosis) and immunomodulatory activity. CD38 is highly and uniformly expressed on multiple myeloma cells and cell surface receptors, making it a potential target for antibody-based therapeutics such as isatuximab.

Isatuximab is an investigational agent and its safety and efficacy have not been evaluated by the U.S. FDA, the European Medicines Agency, or any other regulatory authority.

About SutimlimabSutimlimab is a C1s inhibitor that received breakthrough therapy designation and is currently being investigated for the treatment of CAD in Phase 3 clinical trials. A humanized, monoclonal antibody, sutimlimab is designed to target C1s, a serine protease within the C1-complex in the classical complement pathway of the immune system, which directly impacts the central mechanism of hemolysis in CAD. Similarly, the classical complement pathway has been shown to contribute to the physiopathology of immune thrombocytopenic purpura (ITP). With a unique mechanism of action and high target specificity, sutimlimab is designed to selectively inhibit disease processes by upstream blockade of the classical complement pathway while maintaining activity of the alternative and lectin complement pathways, which are important for immune surveillance and other functions.

Sutimlimab has not been approved by the FDA, EMA or any other regulatory authority for any indication and no conclusions can or should be drawn regarding the safety or effectiveness of this investigational therapeutic.

About BIVV001BIVV001 (rFVIIIFc-VWF-XTEN) is a novel and investigational recombinant factor VIII therapy that is designed to provide high sustained factor activity and extend protection from bleeds with prophylaxis dosing of once weekly for people with hemophilia A. BIVV001 builds on the company's innovative Fc fusion technology by adding a region of von Willebrand factor and XTEN polypeptides to extend its time in circulation. BIVV001 was granted orphan drug designation by the Food and Drug Administration in August 2017 and the European Commission in June 2019. BIVV001 is being developed in collaboration with Sobi.

BIVV001 has not been approved by the FDA, EMA or any other regulatory authority for any indication and no conclusions can or should be drawn regarding the safety or effectiveness of this investigational therapeutic.

About FitusiranFitusiran is potential first-in-class investigational, once-monthly, subcutaneously administered RNA interference therapeutic targeting antithrombin (AT) in development for the treatment of hemophilia A and B, with and without inhibitors. Fitusiran also has the potential to be used for rare bleeding disorders. Fitusiran is designed to lower levels of AT with the goal of promoting sufficient thrombin generation to restore hemostasis and prevent bleeding. Fitusiran utilizes Alnylam's ESC-GalNAc conjugate technology, which enables subcutaneous dosing with increased potency and durability. The clinical significance of this technology is under investigation.

Fitusiran has not been approved by the FDA, EMA or any other regulatory authority for any indication and no conclusions can or should be drawn regarding the safety or effectiveness of this investigational therapeutic.

About BIVV003BIVV003 is an investigational ex vivo gene-edited cell therapy for the treatment of people with sickle cell disease being developed in collaboration with Sangamo Therapeutics, Inc. BIVV003 is a non-viral cell therapy that involves gene editing of a patient's own hematopoietic stem cells (HSCs) using zinc finger nuclease (ZFN) technology to address underlying disease pathophysiology. A Phase 1/2 clinical trial to assess the safety, tolerability, and efficacy of BIVV003 in adults with sickle cell disease has been initiated. Sanofi and Sangamo collaborate on a similar second program, ST-400, an investigational ex vivo gene-edited cell therapy, for the treatment of adults with beta-thalassemia. The safety, efficacy and tolerability ST-400 is currently being evaluated in a Phase 1/2 clinical trial.

BIVV003 has not been approved by the FDA, EMA or any other regulatory authority for any indication and no conclusions can or should be drawn regarding the safety or effectiveness of this investigational therapeutic.

About CabliviCablivi should be administered upon initiation of plasma exchange therapy, and in combination with immunosuppressive therapy, based on a diagnosis of aTTP. Cablivi is first administered as an 11 mg intravenous injection prior to plasma exchange, followed by an 11 mg subcutaneous injection after completion of plasma exchange on day 1. During the daily plasma exchange period and 30 days following daily plasma exchange, patients will take daily 11 mg subcutaneous injections. If after the initial treatment symptoms of the underlying disease are unresolved the treatment can be further extended for a maximum of 28 days. Subcutaneous injection can by administered by a patient/caregiver following proper training.

Cablivi was developed by Ablynx, which was acquired by Sanofi in 2018. Cablivi was approved in the European Union in August 2018 and in the United States in February 2019. Cablivi is part of the company's rare blood disorders franchise within Sanofi Genzyme, the specialty care global business unit of Sanofi.


What is CABLIVI?

CABLIVI (caplacizumab-yhdp) is a prescription medicine used for the treatment of adults with acquired thrombotic thrombocytopenic purpura (aTTP), in combination with plasma exchange and immunosuppressive therapy.

Who should not take CABLIVI?

Do not take CABLIVI if you've had an allergic reaction to caplacizumab-yhdp or to any of the ingredients in CABLIVI.

What should I tell my healthcare team before starting CABLIVI?

Tell your doctor if you have a medical condition including if you have a bleeding disorder. Tell your doctor about any medicines you take.

Talk to your doctor before scheduling any surgery, medical or dental procedure.

What are the possible side effects of CABLIVI?

CABLIVI can cause severe bleeding. In clinical studies, severe bleeding adverse reactions of nosebleed, bleeding from the gums, bleeding in the stomach or intestines, and bleeding from the uterus were each reported in 1% of subjects. Contact your doctor immediately if excessive bleeding or bruising occur.

You may have a higher risk of bleeding if you have a bleeding disorder (i.e Hemophilia) or if you take other medicines that increase your risk of bleeding such as anti-coagulants.

CABLIVI should be stopped for 7 days before surgery or any medical or dental procedure. Talk to your doctor before you stop taking CABLIVI.

The most common side effects includenosebleed, headache and bleeding gums.

Tell your healthcare provider if you have any side effect that bothers you or that does not go away. These are not all the possible side effects of CABLIVI. Call your doctor for medical advice about side effects.

Click here for full prescribing information.

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About Sanofi

Sanofi is dedicated to supporting people through their health challenges. We are a global biopharmaceutical company focused on human health. We prevent illness with vaccines, provide innovative treatments to fight pain and ease suffering. We stand by the few who suffer from rare diseases and the millions with long-term chronic conditions.

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New data to be presented at ASH 2019 highlight Sanofi's commitment to treat challenging blood cancers and rare blood disorders - PRNewswire

Boy, 2, first in Nebraska to receive $2.1 million therapy for rare disorder. ‘He’s doing fantastic’ – Kearney Hub

NORTH PLATTE When Levi Thoene was just past six months old, his parents were told he had a rare genetic condition that meant he probably wouldnt reach his second birthday.

Called spinal muscular atrophy, it meant his body couldnt produce enough of a protein that certain nerve cells in his spinal cord need to survive. The condition leads to weakened muscles, including those needed for vital functions like breathing and swallowing.

On Tuesday, Levi turned 2. And in defiance of his earlier prognosis, his parents are seeing signs that hes making gains.

He can now sit up for 15 minutes or more, said mom Morgan Thoene (pronounced Tay-nee) of Ralston. Hes moving his arms and hands more, and he can do more to signal his wants and needs. His cough is stronger, and hes starting to say words, including no, the staple of toddler vocabulary.

Brandon Thoene, left, and Morgan, right, sit with their son Levi sit up during a visit to his doctor at Children's Hospital on Friday, October 18, 2019. Levi, who has spinal muscular atrophy, a month ago received a new gene therapy called Zolgensma and has been recently able to sit up on his own for the first time.

Anything he does is a surprise, and a blessing, that hes doing it as well as he is, said Brandon Thoene, his dad.

A month ago, Levi became the first child in Nebraska to receive a new gene therapy for spinal muscular atrophy called Zolgensma.

Approved by the Food and Drug Administration in May, it made headlines as one of the first gene therapies with the potential to stop the progression of possibly cure a genetic condition.The one-time treatment also comes with a price tag of $2.1 million.

About 1 in 11,000 babies are born with SMA, according to Cure SMA, an advocacy group. There are four main types, with Type 1, the version Levi has, being the most serious of those and the most common.

Before starting the new treatment, Levi had been getting a different therapy called Spinraza, the first drug available to treat the condition.

While Spinraza gives a defective gene in SMA patients an assist, Zolgensma replaces it, said Dr. Geetanjali Rathore, neurology division chief and director of the neuromuscular clinic at Childrens Hospital & Medical Center in Omaha.

No studies have yet been done to compare the two drugs. While plenty of questions remain unanswered, including about the therapies' long-term performance, both are preventing progression of the disease and resulting in improvements, Rathore said.

Dr. Geetanjali Rathore examines Levi Thoene just before his second birthday at Children's Hospital on Friday, October 18, 2019. Thoene has spinal muscular atrophy and recently received a new gene therapy called Zolgensma.

As a result, doctors for the first time have treatments to offer patients and their families, beyond feeding tubes, ventilators and other supportive care.

I think thats huge, thats huge for us and the SMA population, said Rathore, who well remembers her first SMA patient. A beautiful, 6-month-old girl and her parents first child, she was too old for the early Spinraza trials available at the time. She didnt survive her first year.

Last week, Rathore saw Levi for his one-month follow-up since starting the gene therapy. Hes also getting weekly lab tests to check for any side effects and make sure the treatment isnt affecting his liver or heart.

While its still early days, Rathore said shes very pleased with the progress Levi is making. Hes had no side effects and his lab tests are stable.

I am hoping to continue to see much more improvement, she said. Doctors typically see more measurable motor milestones starting at three months after treatment. At six months, they'll do a formal assessment of motor function.

Brandon Thoene, left, fist-bumps his son Levi during a visit to his doctor at Children's Hospital on Friday, October 18, 2019. Levi, who has spinal muscular atrophy, a month ago received a new gene therapy called Zolgensma and has been recently able to sit up on his own for the first time.

Meantime, the availability of treatments is creating new urgency to begin treatment for SMA as soon as possible, before the lack of the needed protein leads to permanent loss of neurons and function.

Unpublished data presented at medical conferences indicates that very young children treated before they develop symptoms all are doing extremely well, developing almost normally, Rathore said.

That calls for earlier diagnosis. Federal health officials added SMA to their list of recommended screenings for newborns in 2018.

The Nebraska Newborn Screening Advisory Committee voted in March to recommend adding SMA to the states newborn screening panel, the tests all babies are given at birth. State health officials anticipate that legislation to require the screening will be introduced in January.Ten states, including Missouri and Minnesota, already have implemented the testing,according to Cure SMA. Iowawilldecide whether to add it in 2021, pending successful completion of a pilot project expected to start next summer.

Rathore, who spoke in favor of adding the test, said the SMA screening can be performed using the same heel-prick blood sample now collected from newborns before they leave the hospital.

The tests, which now check for more than 30 conditions, look for conditions that would not be apparent just by looking at a baby and that can be treated effectively if identified early. Theyre credited with saving babies lives each year and preventing neurological and other developmental delays.

Morgan Thoene said the family plans to push the Nebraska Legislature to add SMA to the panel. She writes about Levis journey on the Facebook group, Life of Levi.

Morgan Thoene, left, comforts her son Levi during a visit to his doctor at Children's Hospital on Friday, October 18, 2019. Levi, who has spinal muscular atrophy, a month ago received a new gene therapy called Zolgensma and has been recently able to sit up on his own for the first time.

Starting therapy before symptoms develop, she said, could head them off. When Levi was diagnosed in April 2018, the Thoenes, both teachers at area schools, knew nothing about the condition. Levi had been hospitalized beginning in March for failure to thrive. He wasnt gaining weight, he didnt cry very loud and his cough was weak. He certainly wasnt as active as his older brother, Elliot, now 5.

Levi began receiving Spinraza, which the FDA approved in 2016, shortly after he was diagnosed. The drug must be injected into the fluid surrounding the spine every four months indefinitely. The cost is estimated at $750,000 for the first year and at $375,000 a year thereafter. Children's so far has treated 18 patients with that drug.

After Zolgensma was approved by the FDA, staff at Children's staff worked hard to get it OK'd internally for use at the hospital, Rathore said. It's federally approved for children under age 2. Levi, who started it Sept. 20, made it just under the wire.

"Spinraza was great because it allowed him to get a lot of gains," Morgan Thoene said. "But this has produced even more."

The gene therapy, given intravenously, is delivered by a virus that has had its genetic material removed. It's replaced with the gene that codes for the lacking protein. But rather than integrating with the patient's DNA, it sits on the side and goes to work to increase production of the protein.

In Levi's case, the costs were shared by Blue Cross Blue Shield of Nebraska and Medicaid.

Multiple studies, she said, found that the cost of caring for patients with SMA Type 1 think ventilators, wheelchairs, hospitalizations significantly outpaced the annual cost of Spinraza. Those studies haven't yet been done yet for Zolgensma, but the therapy is expected to be cost effective in the long term, particularly if it proves to be a one-time therapy.

Efforts are under way to expandboth treatments to more kids. Children's is on the list to become a center for trials of Zolgensma in children older than 2 who have less severe forms of the disease.

The hospital also has begun a study to gauge improvements in quality of life in such patients. That will focus on more subtle but still important changes such as whether patients can eat by themselves and how much help they need to move. It's new territory, Rathore said, because the focus with SMA patientshas for so long been on survival.

The Thoenes celebrated Levi's big milestone at home, just the four of them. They planned tomark the occasion with extended family and friends Sunday with a gathering at an area pizzeria.

For now, they're celebrating the progress he's made.Said Morgan Thoene, "He's doing fantastic."

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Boy, 2, first in Nebraska to receive $2.1 million therapy for rare disorder. 'He's doing fantastic' - Kearney Hub

Genome Sequencing In NICU Can Speed Diagnosis Of Rare Inherited Diseases : Shots – Health News – NPR

Nathaly Sweeney, a neonatologist at Rady Children's Hospital-San Diego and researcher with Rady Children's Institute for Genomic Medicine, attends to a young patient in the hospital's neonatal intensive care unit. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

Nathaly Sweeney, a neonatologist at Rady Children's Hospital-San Diego and researcher with Rady Children's Institute for Genomic Medicine, attends to a young patient in the hospital's neonatal intensive care unit.

When Nathaly Sweeney launched her career as a pediatric heart specialist a few years ago, she says, it was a struggle to anticipate which babies would need emergency surgery or when.

"We just didn't know whose heart was going to fail first," she says. "There was no rhyme or reason who was coming to the intensive care unit over and over again, versus the ones that were doing well."

Now, just a few years later, Sweeney has at her fingertips the results of the complete genome sequence of her sickest patients in a couple of days.

That's because of remarkable strides in the speed at which genomes can be sequenced and analyzed. Doctors who treat newborns in the intensive care unit are turning to this technology to help them diagnose their difficult cases.

Sweeney sees her tiny patients in the neonatal intensive care unit of Rady Children's Hospital in San Diego. Doctors there can figure out what's wrong with about two-thirds of these newborns without a pricey DNA test. The rest have been medical mysteries.

"We had patients that were lying here in the hospital for six or seven months, not doing very well," she says. "The physicians would refer them for rapid genome sequencing and would diagnose them with something we didn't even think of!"

Rady's Institute for Genomic Medicine, which has been pioneering this technology, has now sequenced the genomes of more than 1,000 newborns.

In a building across the street from the hospital, three $1 million sequencing machines form the core of the operation. Technicians tending to the NovaSeq 6000s can put DNA from babies (and often their parents) into the machine in the late afternoon and have a complete genome sequence back by 11 a.m. or noon the next day, says clinical lab scientist Luca Van der Kraan.

That fact is worth repeating: An entire genome is decoded in about 16 hours.

Kasia Ellsworth is one of the experts waiting in a nearby office to analyze the information. That task has shrunk from months to typically just four hours, thanks to increasingly sophisticated software.

Ellsworth inputs the baby's symptoms into the software, which then spits out a long list of genetic variants that might be related to the illness. She scrolls down the screen.

"I'm looking through a list of those variants and then basically deciding whether something may be truly contributing to the disease or not," she says.

About 40% of the time, a gene stands out, giving doctors a tentative diagnosis. Follow-up tests are often requested, and those can take several days. But in the meantime, doctors can sometimes act on the information they have in hand.

When she or a colleague makes a diagnosis, "You always feel very relieved, very happy and excited," she says. "But at the same time you kind of need to put it in perspective. What does it mean for the family, for the patient, for the clinician as well?"

Often it's a sense of relief. And for a minority of cases, it can affect the baby's treatment.

"We now are at the point where I think the evidence is overwhelming that a rapid genome sequence can save a child's life," says Dr. Stephen Kingsmore, the institute's director and the driving force behind this revolution.

By his reckoning, the results change the way doctors manage these cases about 40% of the time.

Treatments are available for only a small share of these rare diseases. In other cases, the information can help parents and doctors understand what's wrong with their baby even if there is no treatment or learn whether death is inevitable. "And there it's a very different conversation," Kingsmore says. "We help guide parents through picking an appropriate point at which to say enough is enough" and to end futile treatments.

Of course, Kingsmore highlights the happier outcomes. One example is a bouncy girl named Sebastiana, now approaching her third birthday.

As a newborn, Sebastiana Manuel was diagnosed with a rare disease after rapid genome sequencing. She is seen here at 11 months of age. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

As a newborn, Sebastiana Manuel was diagnosed with a rare disease after rapid genome sequencing. She is seen here at 11 months of age.

He showed off her case recently in front of the Global Genes conference, a meeting of families with rare genetic conditions.

"She was critically ill in our intensive care unit," he tells the audience, "and in a couple of days we gave the doctors the answer. It's Ohtahara syndrome. It comes with this specific therapy. And she hasn't had a seizure in 2 1/2 years. She doesn't take any medication."

The audience applauds enthusiastically at an outcome that sounds miraculous. But when you meet Sebastiana and her mother, Dolores Sebastian, a more complicated story emerges.

Ohtahara syndrome isn't actually what made Sebastiana ill it's a term doctors use to describe newborn seizures. Those are actually a symptom of deeper brain issues. That was apparent the day she was born.

"She was acting weird and screaming and crying and turning purple and we weren't sure why," her mother says.

The hospital where Sebastiana was born rushed her to the neonatal intensive care unit, across town at Rady. She was having frequent seizures. The following days were a nightmare for Sebastian and her husband.

"I can't even describe it," she says. "I always keep on saying that at that moment I was kind of like dead, but I was walking."

The hospital ran a battery of tests to look for severe brain damage. They couldn't get to the bottom of it.

"They came in and offered us the genomic testing," Sebastian said. "They never told us how quick it would be."

She was surprised when the results were back in four days. The doctor told her they had identified a gene variant that can trigger seizures as well as do other harm to the brain.

"He said this is how we're going to go ahead and change her medications now and treat her," she says. And that made a "huge difference, [an] amazing difference."

Sebastiana was already on a medication that was helping control her seizures, but they sedated her to the extent that she needed a feeding tube. On the new medication, carbamazepine, she was alert and able to eat, and her seizures were still under control. Sebastian says her daughter is still taking that drug.

Controlling her seizures isn't a cure. Children who have this genetic variant, in a gene called KCNQ2, can have a range of symptoms from benign to debilitating. Sebastiana falls somewhere in between. For example, she has only a few words in her vocabulary as she approaches the age of 3.

"She took her first steps when she was 2 years old, so she's delayed in some things," Sebastian says, "but she's catching up very quickly. She has [physical therapy]; she's going to start speech therapy. She gets a lot of help but everything's working."

Sebastiana Manuel (second from left) with members of her family: Domingo Manuel Jr. (from left), Dolores Sebastian and Tony Manuel. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

Sebastiana Manuel (second from left) with members of her family: Domingo Manuel Jr. (from left), Dolores Sebastian and Tony Manuel.

KCNQ2 variants are the most common genetic factor in epilepsy, causing about a third of all gene-linked cases and about 5% of all epilepsies. Sebastiana's case could have been diagnosed with a less expensive test. For example, Invitae geneticist Dr. Ed Esplin says his company offers a genetic screen for epilepsy that has a $1,500 list price and a two-week turnaround.

Rady's whole-genome test costs $10,000, Kingsmore says. But it casts a wider net, so it might provide useful information if a baby's seizures are caused by something other than epilepsy.

And Kingsmore says his test costs about as much as a single day in the NICU. "In some babies we avoid them being in the intensive care unit literally for months," he says.

Kingsmore and colleagues have published some evidence that their approach is cost-effective, based on an analysis of 42 cases.

Even so, most insurance companies and state Medicaid programs are still balking at the cost. Kingsmore says private donors are helping support this effort at Rady, which sequences about 10% of the babies in the NICU, and at more than a dozen others scattered from Honolulu to Miami. They send their samples to Rady for analysis.

Kingsmore is pushing to expand his network in the next few years, to reach 10,000 babies at several hundred children's hospitals.

Other providers are also starting to offer whole-genome sequencing. But Dr. Isaac Kohane, chair of the department of biomedical informatics at Harvard Medical School, worries that the technology is too unreliable.

Knowledge of genes and disease is evolving rapidly, so these analyses run the risk of either missing a diagnosis or making a mistaken one. Kohane says there's still a lot of dubious information there a typical person has 10 to 40 gene variants that the textbooks incorrectly identify as causing disease.

Kohane is part of a medical network that helps diagnose people with baffling diseases. A study from 2018 found "a third of the patients who actually come to us already had full genome sequences and interpretations," Kohane says. "They were just not correct."

Even so, Kohane sees this use in the NICU as a relatively fruitful use of gene sequencing. "This is one of the few areas where I think the Human Genome Project is really beginning to pay off in health care," he says, "but buyer beware, it's not something ready to be practiced in every hospital." (He supports the work at Rady in fact, he is a science adviser.)

Kingsmore is already looking ahead. "We want to solve the next bottleneck, which is, 'I don't have a great treatment for this baby,' " he says. That's a far greater challenge, and it's especially difficult for a mutation that has altered a baby's development in the womb. Those problems may often not be reversible.

Kingsmore is undeterred. "It's going to be an incredibly exciting time in pediatrics," he says.

You can contact NPR science correspondent Richard Harris at

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Genome Sequencing In NICU Can Speed Diagnosis Of Rare Inherited Diseases : Shots - Health News - NPR

Viewpoint: Netflix’s new horror movie ‘Eli’ is a fright. But why did they have to ‘tarnish gene therapy’? – Genetic Literacy Project

The new horror flick on Netflix, Eli, released just in time for Halloween, borrows from The Exorcist and Rosemarys Baby, with touches of The Shining. And it all takes place in what looks like Downton Abbey with the cleaning staff gone.

Eli works; its scary. But the set-up using gene therapy gone awry is unfortunate, superfluous, and even offensive. (Beware, spoilers ahead)

The film opens with 11-year-old Eli dreaming about being able to go outside without his hazmat suit and breathing without his skin reddening and blistering. He awakens and hes inside, in a bubble.

David was diagnosed, four years earlier, with a rare formof severe combined immune deficiency (SCID). It slashes his ability to make the antibodies that protect against infection, unleashes inflammation that reddens his skin, while at the same time turns his immune system against his own tissues, an autoimmune response.

The parents, caring Rose and weirdo Paul, bundle Eli up to take him to a doctor whos going to cure him with a new treatment. Once at the supposedly clean Downton Abbey haunted house, Eli has a decontamination shower.

When the boy meets the doc, she explains that his immune system makes too many bad immunoglobulins, using that word instead of antibodies because it sounds more technical.Eli quickly responds, spouting out that he has mutations in the RAG1 and RAG2 genes (recombination-activating genes).

Elis body cant make the enzymes that mix and match antibody parts, and the proportions of a bunch of immune system cells and proteins go out of whack. His condition is also called Omenn syndrome.

Dr. Horn has two nurses, and all three of them wear purple uniforms.

Good news! Dr. Horn will administer viral gene therapy! I will make you better, like my other patients, she assures the boy.

Rose gingerly begins to unwrap the blue layers that encase her son, bending down and looking like Laura Dern examining dino poo in Jurassic Park or Princess Leia releasing the hologram from R2D2. Mom and boy can finally hug!!!

At night, the house creaks. Eli wanders the spooky halls, glimpsing kids in the windows, mirrors, and reflections, including ghostly girls who look like the twins at the end of the hallway in The Shining.

A redheaded girl outside, Sadie Sink, apparently escaped from playing Max on Stranger Things, seems real.

Im allergic to the world, Eli tells her. Not exactly.

The next morning, Dr. Horn blames Elis ghost sightings on a side effect from immunosuppressants. Why is she trying to suppress an immune system already so impaired?

Next Eli, who looks so much like Tom Petty that I expected him to shriek I Wont Back Down, is strapped down to a table with a contraption holding his head in place, as Dr. Frankenstein asks her nurses to take a reading.

Dr. Horn at first seems to have gotten the basic idea of gene therapy correct: introducing a working copy of the mutant gene aboard viruses into stem cells from bone marrow. And poof! Like a magic trick! itll work, she proclaims.

She proceeds to extract a hunk of pinkish gunk after drilling into a bone, as the immobilized boy twists and grimaces on the table. Satisfied, the doc plops the glob into a Petri dish.

It burns! Eli shrieks.

That means its working, replies the doc. Within seconds, the doctored viruses have apparently hit their targets.

Then Eli awakens. It all seems a dream, but its foreshadowing.

A ghost appears in a bloody nightgown.

The house breathes at night.

A scrawny, dagger-nailed hand grabs Eli and the apparition turns into his father.

When Eli writes his name on a window, the letters rearrange to spell Lie, like Redrum becoming Murder in the mirror in The Shining. Later on, with the E written like a 3, Eli scratched into various furniture surfaces in the house becomes 317317317. What can it mean?

When Eli reports these events, Dr. Horn barks, Its the medication, as if sophisticated gene therapy has suddenly become as mundane as a tab of Tylenol. Shell have to lower the dosage because the second of the three treatments is coming up.

Treatment 2 is indeed brutal. Eli is held in a contraption like the one Hannibal Lecter wears to keep him from eating people and his head bolted like hes Frankenstein.

Were confident that the gene therapy virus is correcting the mutation, Dr. Horn declares, adding that this will burn a little bit, as she presumably delivers more.

When Eli turns red and screams, she assures him that this is supposed to happen. The virus is penetrating the blood-brain barrier, as if said barrier is a superhighway requiring that the bolts hold his head still.

I was speechless.

Barrier refers to the blood vessels in the brain that are closed to large molecules, which keeps toxins out. A widely-used gene therapy vector, AAV9 (adeno-associated virus 9), has been known for a decade to naturally cross the barrier. And that doesnt require torture hardware.

Heres a photo of one of the kids I write about receiving AAV9 gene therapy for a rare neurological disease through an intravenous delivery in her hand!

The doc then attributes Elis reaction to his body initially rejecting the new cells, like any transplant. But if his gene therapy consists of viruses traipsing across the blood-brain barrier, where did cells suddenly come from? Is it the doctoring of stem cells from bone marrow that was in Elis dream, or delivering viruses into the bloodstream?

Elis nocturnal adventures continue. Hes pushed and pulled from unseen forces as the floor turns transparent, revealing scary medical people. As he keeps bellowing the doc orders Haldol and his mom pushes Valium.

The mysterious 317 opens a key pad to an inner sanctum, which looks like the set of the second Indiana Jones film. We see insects alighting, so the place was never a clean room after all.

Eli finds a notebook with case histories of the past patients and the pieces start to fit. Perry. Agnes. Lucas.

After treatment 2, the kids eyes look haunted, their complexions gray, like Eli. After treatment 3, their heads exploded.

Then the religion clues start to fall out.

Eli discovers a photo of nuns that includes his medical team. A huge iron cross sheaths a dagger. The surgical table with Eli across it resembles Christ on the cross.

One reviewer posits that the plot is about gay conversion, pointing to a scene in which Eli literally crawls out of a closet to tell his parents the truth.

The action speeds up and twists as treatment 3 looms.

Dr. Horn dons religious garb, makes the sign of the cross, flings holy water, and babbles about Jesus and the archangel. The boy, having discovered the medical records, has become a liability.

I thought I could cure Eli. The gene therapy would have worked, if he wasnt so strong. But he cant leave here! the enraged doc yells.

But when Eli is tied down and Dr. Crazy is coming at him with the dagger pulled from the cross, he suddenly summons his inner Regan MacNeil (from The Exorcist) and stops the knife in mid-air, turns it around, and forces the doctor to stab herself. She mutters may you find peace and forgiveness in the name of the Lord, channeling Father Damien KarrasThe power of Christ compels you! as he attempts to exorcise Regan.

With the plunging of the dagger, Eli, red-eyed and screaming, rips off his restraints. His parents are thrown to the floor while the nurses and the doc, somehow still living with the dagger in her chest, try to leave.

But Eli, like Anthony in the cornfield episode of the Twilight Zone, points at them and they turn in unison and then elevate, like Regan rising from her bed. The purple ones then float around the room in an eerie circle emanating an unearthly blue glow, as if theyre on one of those centripetal force amusement park rides.

A conspiracy revealed

It turns out that all are in on whats happening, even the nice-seeming mom. And Eli realizes hes never been sick.

What has she been putting inside me? What have you been putting inside me? he shrieks at his parents, conjuring images of Rosemarysdevil spawn.

At that the nurses and doc suddenly flip upside down, the horror equivalent of Regans rotating head, and slam to the floor.

What am I?

Our son.

Eli sets the nurses and doc on fire.

Are you my dad?

I prayed every day! answers dad.

Prayed to whom? the boy bellows.

The Lord didnt answer me, but your father did, Rose utters mysteriously.

And we know.

Eli never had a SCID. Its a twist on Munchausen Syndrome by Proxy, the cause of his symptoms the holy water that mom and then doc sprinkled on him.

But the ultimate cause? Dad is the devil. At that realization, Eli makes his dads head explode.

The other kids, whose bodies indeed turn up, were Elis half-siblings, even Haley. Dad the Devil got around.

Eli is fun, fast and scary. But why did the writers have to tarnish gene therapy? Why use a genetic disease at all? And especially an ultra rare one? I cant help but wonder what motivated the writers to do this.

Ive devoted the past decade to learning about families who have rare genetic diseases and have kids who have had, or wish they could have, gene therapy, writing about them, and accompanying some of them on their journeys.

In addition to my posts here and at my blog DNA Science, I wrote the only book on gene therapy, The Forever Fix, which chronicles the efforts of a few families. The first gene therapy was FDA-approved in late 2017. The technology has indeed been like the mythical phoenix bird, arising from the ashes.

For the families, I resent the use of gene therapy as a plot point.

After viewing the film the other night, I did a final Facebook check. The first thing that popped up: a photo of an exquisite child, on a page for families dealing with Sanfilippo syndrome, a devastating neurological condition.

The boy was now free of the cruel disease, free to be at peace. He was 11. Elis age.

Genetic disease, and especially attempts to treat it, shouldnt be the stuff of horror films.

Ricki Lewis is the GLPs senior contributing writer focusing on gene therapy and gene editing. She has a PhD in genetics and is a genetic counselor, science writer and author of The Forever Fix: Gene Therapy and the Boy Who Saved It, the only popular book about gene therapy. BIO. Follow her at her website or Twitter @rickilewis

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Viewpoint: Netflix's new horror movie 'Eli' is a fright. But why did they have to 'tarnish gene therapy'? - Genetic Literacy Project

From One to Many: The Growing Treatment Landscape of HER2-Positive Breast Cancer –

Two decades ago, a patient with HER2-positive breast cancer had a single targeted drug option. Now a plethora of new and emerging treatments fill the landscape.

BY Meeri N. Kim, Ph.D.

Over the summer, Gulley had noticed a hard lump in her right breast. Having experienced fibroadenomas benign, noncancerous breast lesions in the past, she mostly ignored it. During Gulleys annual gynecological exam in November, even her doctor didnt seem too concerned but asked her to keep an eye on it for the next few weeks. When the lump hadnt gone away by December, Gulley scheduled a mammogram and ultrasound.Although I didnt officially get the diagnosis until January 2018, they were already 100% sure that it was cancer, says Gulley, now 33. I have no family history of breast cancer whatsoever, and I thought at the time that breast cancer was always hereditary, so it was very shocking. Getting that news is really overwhelming, and I had no idea what was to come.

Because of her young age, her doctors wanted to start treatment right away. They took three biopsies, which revealed a subtype of breast cancer known as HER2 positive. Women with HER2-positive breast cancers have tumors with higher levels of a growth-promoting protein called HER2, which stands for human epidermal growth factor receptor 2. As a result, these cancers grow and spread more aggressively than other types of breast cancer. About one out of every five breast cancers has extra copies of the HER2 gene (known as gene amplification) that leads to an overexpression (high levels) of the HER2 protein.

Jennifer Campisano received a diagnosis of HER2- positive breast cancer in 2011, also at an early age. HER2- positive status is more common among younger patients with breast cancer, with mutation incidence at 29.9% in patients ages 15 to 29 and 25.5% in those ages 30 to 39. When Campisano was 32, she and her husband, Chris, had their first child, a boy named Quinn. When he was just 3 1/2 months old, Campisano noticed a walnut-size lump in her right breast.

After two OB-GYNs told her it was probably nothing, she eventually saw a surgeon who sent her straight to the radiology department for a mammogram and ultrasound.

In my head, I still wasnt thinking cancer, but the radiologist told me, Im 99% sure this is cancer, says Campisano, who lives in Phoenix. After the biopsies, they called me and confirmed that it was HER2-positive breast cancer. It was rough. I had to wean my son overnight, which was really painful.

Fortunately, the treatment landscape for this type of disease has evolved considerably over the past two decades, with the development of drugs that target the HER2 protein. Even today, treatment options continue to emerge for patients like Campisano and Gulley, who both received newer agents as part of their regimens for earlier-stage disease and remain cancer-free.

In the past, HER2-positive breast cancer was known as a more aggressive disease with a worse prognosis than HER2-negative breast cancer, says Dr. Janice Lu, clinical professor of medicine at the University of Southern California Norris Comprehensive Cancer Center. But with the development and approval of five drugs now that specifically target HER2, being HER2 positive is no longer any worse for patients than being HER2 negative.

In clinical trials, researchers are testing several other agents for HER2-positive breast cancer with a high likelihood of approval by the Food and Drug Administration (FDA). They are mostly focused on treating patients in the metastatic setting, meaning the disease has spread beyond the breast, and those whose disease is resistant to more commonly used drugs.

A LARGE TOOLBOX OF TREATMENTSIn 1987, oncologist Dr. Dennis Slamon at UCLA discovered that the HER2 protein was present at high levels in certain breast cancers. The protein is also found on the surface of normal breast cells, but some breast cancer cells have 40 to 100 times more HER2, which stimulates the tumor cells to divide and grow. This overexpression of HER2, which became known as HER2 positivity, was linked to a higher likelihood of metastasis and relapse in patients, along with a decrease in overall survival, or the length of life measured from the start of treatment.After this discovery, Slamon and his colleagues had a novel idea: What if HER2 proteins activity could be blocked? Shouldnt that, in theory, halt the aggressive growth of the cancer cells? This train of thought led to the groundbreaking development and FDA fast-track approval of the first drug to target HER2 in 1998. In fact, it was the first drug to target a protein that contributes to the development and growth of any cancer: Herceptin (trastuzumab).

Herceptin is a monoclonal humanized antibody, a laboratory-created molecule that attaches to cancer cells, inhibits the growth factor function of HER2 and attracts attack by the immune system. In a phase 3 clinical trial, adding Herceptin to chemotherapy was associated with more responses, longer time until cancer progression and better survival in patients with metastatic HER2-positive breast cancer compared with chemotherapy alone. In 2006, it was approved with chemotherapy for use after surgery, to help prevent recurrence, in earlier-stage HER2-positive breast cancers.

Herceptin is generally well-tolerated, causing mild to moderate side effects such as muscle aches, dizziness, headache, fever/chills and runny nose. However, it does come with a small risk of cardiotoxicity especially for women who were also treated with anthracycline chemo- therapy which usually manifests as cardiac dysfunction, primarily a condition known as cardiomyopathy, which can lead to congestive heart failure.

We are getting long-term data on outcomes with trastuzumab after its FDA approval 20-plus years ago, and today if women are diagnosed with HER2-positive breast cancer, we can tell them their prognosis is as good as those with HER2- negative disease, says Dr. Sara Hurvitz, a medical oncologist at UCLA. Although trastuzumab has leveled the playing field, it isnt a cure for 100% of patients by any means. For early-stage cancer that recurs as metastatic disease, trastuzumab can improve outcomes and help patients live with the disease, but it does not cure, for the most part.

More recently, patients have also benefited from a newer HER2-targeting therapy called Perjeta (pertuzumab), which was approved in 2012. Similar to Herceptin, Perjeta is a monoclonal antibody that attaches to HER2 receptors on the surface of breast cancer cells and prevents them from receiving growth signals. It targets a different area on the HER2 receptor than Herceptin, which means it can act as a complementary treatment or serve as an alternative therapy for Herceptin-resistant disease.

This drug is used in both earlier-stage and metastatic HER2-positive breast cancers.

For women with early-stage HER2-positive breast cancer, the standard of care is currently chemotherapy plus Herceptin. Typical chemotherapy regimens include AC-TH, or Adriamycin (doxorubicin) and Cytoxan (cyclophos- phamide), followed by a taxane that is given concurrently with Herceptin. Recently, it has become more common to use TCHP, which includes docetaxel and carboplatin given concurrently with Herceptin and Perjeta.

This minimizes the cardiac risks associated with Adriamcyin along with Herceptin. Patients on either regimen will end with Herceptin (and Perjeta if used with chemotherapy) after completing the chemotherapy portion, such that a full year of antibody therapy is given.

In the metastatic setting, the standard of care for initial treatment is a combination of Herceptin, chemotherapy and Perjeta. Studies have found that 15% to 25% of patients with early-stage, HER2-positive breast cancer eventually experience metastatic recurrence after initial treatment. Then, the prognosis is poor, with most recurrences involving incurable metastatic disease, although some patients can survive for many years with their cancer controlled by several available medications.

In the metastatic setting, were not curing the vast majority of patients with HER2-positive disease, and resistance does occur, says Dr. Sara Tolaney, associate director of the SusanF. Smith Center for Womens Cancers at Dana-Farber Cancer Institute in Boston. But patients continue to live longer because they can go from one treatment to the next. There are now multiple options to go to as resistance develops, and there are also clever ways to overcome resistance.

In 2012, Campisano started the TCH regimen along with surgery and radiation therapy. When it looked like her cancer recurred, her doctors gave her newly approved Perjeta, along with Herceptin and chemotherapy. Less than a week after her 2018 wedding, Gulley was also treated with Perjeta in conjunction with the AC-TH regimen following her mastectomy. The agent had already been approved for more than five years to treat both metastatic HER2-positive breast cancer and early-stage disease prior to surgery, and in 2017 it won approval to be given after surgery for early-stage disease.

I was on Perjeta for a year, and my doctors warned me about diarrhea being a common side effect, Gulley says. I definitely noticed that in the beginning of treatment, but my body got used to it, I guess, because at the end of the year, I wasnt as bad. I used over-the-counter Imodium and things like that to combat it.

With the combination of Perjeta and Herceptin, Campisano experienced very mild side effects itchy skin and a runny nose but they were nothing compared to how she felt during chemotherapy. Unfortunately, her scans still showed what looked like cancer after her initial treatment, so she started on Kadcyla (ado-trastuzumab emtansine, also known as T-DM1).

Kadcyla is a type of antibody-drug conjugate, an emerging class of agents comprised of an antibody linked to a highly potent anti-cancer drug. They combine the heat-seeking ability of targeted therapy with the cancer-killing power of chemotherapy. In 2013, Kadcyla was approved for patients with metastatic HER2- positive breast cancer who were previously treated with Herceptin and taxanes. Earlier this year, it gained approval for use in the adjuvant (postsurgical) setting for early-stage disease. Common side effects include fatigue, nausea, bone and joint pain, muscle pain and constipation.

In the phase 3 KATHERINE study, Kadcyla given after surgery significantly reduced the risk of invasive breast cancer recurrence or death from any cause by 50% compared with Herceptinin patients who had residual disease after neoadjuvant (presurgical) therapy. An analysis showed that of 1,486 patients in the trial, 165 in the Herceptin group and 91 in the Kadcyla group had experienced invasive disease or death. In addition, at three years, 88.3% of those who took Kadcyla versus 77% of those who took Herceptin were free of invasive disease.

Campisano took Kadcyla for almost three years. In 2016, a lung biopsy revealed that what had appeared to be cancer in her lungs was actually an autoimmune disease that can mimic cancer on scans. She was taken off treatment and finally tested cancer-free. Even if she didnt need T-DM1, she refers to it as a wonder drug.

Another option in both early-stage and metastatic HER2- positive breast cancer is Nerlynx (neratinib). In early-stage disease, the drug is approved for extended postsurgical therapy after chemotherapy and Herceptin to reduce the risk of recurrence. Nerlynx is a kinase inhibitor, which blocks enzymes that promote cell growth. Specifically, it inhibits the activity of HER2 and other enzymes in its family. In a phase 3 clinical trial, 94% of those who took Nerlynx experienced no disease progression over two years versus 91% in a placebo group. Common side effects included diarrhea, vomiting and nausea.

The results from a more recent phase 2 trial showed that combining Nerlynx with a chemotherapy drug called capecitabine has an effect on patients with HER2-positive breast cancer who have brain metastases.

Neratinib is notable because it has activity with HER2- positive brain metastases, which occurs in about 50% of patients with metastatic disease, Tolaney says. It already has FDA approval in the adjuvant setting for patients who have completed a year of trastuzumab, and it will likely get approval in the near future for the metastatic setting based on the results of the trial.

Finally, the kinase inhibitor Tykerb (lapatinib) was approved in 2007 for the first-line treatment of HER2-positive metastatic breast cancer, first with the chemotherapy Xeloda (capecitabine) and later with the hormone-blocking drug letrozole for postmenopausal women with hormone-driven breast cancer that over- expresses the HER2 receptor. A 2009 study showed that adding Tykerb was associated with a 5.2-month increase in median time without disease progression compared with taking letrozole alone (8.2 months with the drug combination versus 3.0 months with letrozole only).

NEW DRUGS HOLD PROMISEPatients have a lot of options, and there are multiple new therapies in clinical trials, some of which are very prom- ising, Hurvitz says. Three in particular deserve mention: tucatinib, a pill that appears to be safer than neratinib and lapatinib because it doesnt cause as much diarrhea; DS-8201, another antibody-drug conjugate with a different chemo payload than Kadcyla; and margetuximab, which is similar to trastuzumab.

All three investigational agents have shown tremendous promise in fighting HER2-positive disease and are expected to gain FDA approval in the near future. The HER2CLIMB trial is currently investigating tucatinib, a HER2-specific tyrosine kinase inhibitor, with Herceptin andcapecitabine in patients with metastatic HER2-positive breast cancer. It can penetrate the blood-brain barrier better than antibody drugs like Herceptin and Perjeta and demonstrated abrain-specific response in five of 12 patients with brain metastases. Hurvitz expects tucatinibto gain FDA approval within the next six to 12 months.

DS-8201 (trastuzumab deruxtecan) links Herceptin with a chemotherapeutic drug a topoisomerase inhibitor called deruxtecan, which interrupts DNA replication in cancer cellsand is guided more specifically to HER2-positive cells while mostly sparing normal cells.

The FDA granted this experimental antibody-drug conjugate breakthrough therapy designation, expediting its development and review, as a potential treatment for patients with HER2-positive, locally advanced or metastatic breast cancer who have been previously treated with Herceptin and Perjeta and have disease progression after T-DM1. In a phase 1 study, 54.5% of HER2-positive women treated with DS-8201 saw their cancer respond to the drug.

DS8201 is an up-and-coming drug that everyone is very excited about. It delivers a different payload into the cancer cell than TDM-1 and also uniquely allows for the bystander effect, Tolaney said. This means that some of the drug that enters one cancer cell can pass through its cell membrane into neighboring cancer cells, which then kills them.

A more recently studied monoclonal antibody, margetuximab, has been described as an optimized version of Herceptin. A section of the antibody was engineered to better engage the immune system in fighting the disease. In the phase 3 SOPHIA trial, patients with metastatic HER2-positive breast cancer who took the investigational drug with chemotherapy had a median progression-free survival of 5.8 months compared with 4.9 months for those treated with Herceptin and chemotherapy.

These new drugs are rising stars in the metastatic setting, and many other agents are currently being tested, Lu says. Patients with HER2-positive breast cancer should discuss with their doctors what is the standard of care, next steps for treatment, any clinical trials that are potentially available and, of course, possible side effects.

Although they continue to adjust to a new normal after cancer, Gulley and Campisano are grateful to be cancer-free and hopeful about the growing availability of treatment options for their disease. Gulley had a left-side mastectomy in February of this year, after a mammogram revealed calcifications in her remaining breast. She was also put into a chemical menopause at age 33, which means hot flashes, night sweats and fatigue.

After my wedding, instead of going on a honeymoon, I started my chemotherapy. This has all been such a whirlwind, Gulley said. Being newly married, its really hard. Menopause has a lotof bad side effects, sexually and otherwise. That fear of recurrence is always there too, but Im so thankful for the two medicines that were available to treat me.

Campisano also went through early menopause, induced by chemotherapy. She eventually emerged from that menopause and, surprisingly, became pregnant with her second child. But the chaos of having a newborn, then a cancer diagnosis and treatment, followed by another baby left her physically and mentally exhausted.

I dont think I had time to process anything in the beginning. My husband and I had not even been married three years when I was diagnosed, and today Im left with range-of-motion issues, body image issues, a bilateral mastectomy and post-traumatic stress disorder, Campisano says. I know that we dont have a cure for metastatic HER2-positive breast cancer, but its wonderful that these new drugs do work for some people.

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From One to Many: The Growing Treatment Landscape of HER2-Positive Breast Cancer -

Dr Batra’s have launched a new genetics-based therapy that predicts future diseases – Gulf Today

Dr Mukesh Batra, the owner of Dr Batras clinics.

Mitchelle DSouza, Sub-editor/Reporter

The founder and chairman of Dr Batras group of companies, Dr Mukesh Batras name has become a byword for homeopathy.

The pioneering Indian doctor-cum-entrepreneur has built a legacy which includes a network of clinics, day-care aesthetic centres, and health and wellness products.

We caught up with Dr Batra at his Healthcare City clinic in Dubai, where he spoke at length about the workings of homeopathy and introduced us to the new Geno-Homeopathy treatment launched by the brand.

Can you explain what homeopathy treatment is for those who dont have a clear understanding? How does it work in comparison to conventional medicine?

Theres actually a misconception that its not well known. For emergencies and conventional problems, allopathy is the go-to. Like a heart attack, surgeries, gunshot wounds and so on.

However, homeopathy is safe for anything that is chronic and long lasting such as psychosomatic problems like stress, anxiety, and depression related issues; allergies, skin and hair problems.

We treat a wide range of illnesses such as asthma, arthritis, anxiety, depression, backache, cervical spondylitis, kidney stones in primary stage, warts, piles, PCOD, nasal polyps etc.

It has no side-effects and is completely painless and non-invasive. It goes to the root of the problem, nipping it in the bud, rather than just supressing it temporarily with pain killers.

"People are getting disillusioned with chemical medication, its side effects and opting for substances that are natural and safe, and holistic remedies, which homeopathy includes.

Is it true that homeopathy is slower in addressing an ailment in comparison to allopathy?

Its partly true, but not entirely. If you come to allopathy for a chronic sinus problem, you pop a pill and supress it. Similarly for a skin allergy, an ointment will supress the symptoms. The moment you stop, it flares up again.

So when you look at suppression, it is quick in allopathy, but thats not a cure. In conventional medicine, treatment is as slow as homeopathy or maybe even slower

For instance, a patient may be supressing his/her migraine or skin problem for the last 10 years with allopathy by taking pain killers and anti-inflammatories but without a proper solution.

However, if he/she were to take homeopathy for just 10 months, it would cure it, and hence that makes it much faster and effective as it gets to the root of the cause.

The reason it may feel seemingly long is because most illnesses are chronic, long-standing and deep-rooted.

Geno-Homeopathy treatment employs a gene test to predict, pre-empt and treat an illness. Charles Bertram/TNS

Can you give us an insight into the new Geno-Homeopathy treatment launched in the UAE?

As you may be aware, genetic DNA studies have been around for some years and have become more popular off late, thanks to Angelina Jolie creating awareness by positively testing herself for a cancer gene.

This helps predict and pre-empt an illness. How this works is that you have genes that are inherited, with 99.9 per cent of them being normal. But 0.1 per cent genes can be faulty and that percentage decides what diseases we carry.

A gene is like a finger print, it never changes. So just like you would use your finger print or pupil for identity, this is used for gene mapping through a simple sputum test. Now that 0.1 percentage gene decides how healthy I can be and which diseases I am likely to suffer from.

So with Geno-Homeopathy we can now analyse those 0.1 per cent genes. We completed one year in India in September and did 15,000 cases of genetic mapping.

This technique gives you your disease propensity and can tell you, for example, whether youll go bald five or 10 years from now; if youre prone to heart attack or diabetes it will tell you when youre likely to get it.

Post an analysis, a homeopathic treatment is offered to the patient to treat a condition. So this can be almost life-saving and is now within peoples reach in the UAE.

Angelina Jolie found out through genetic testing similar to Geno-Homeopathy that she is at a high risk of developing breast cancer.Marechal Aurore/TNS

There are a lot of cynics out there who question the scientific basis of homeopathy. What do you have to say to that?

A research we conducted three to four years ago found that a majority of people in Indian metros were taking homeopathy as the first choice of treatment. Pharma is growing at 10 per cent while homeopathy is growing at 30 per cent all over the world.

People are getting disillusioned with chemical medication, its side effects and opting for substances that are natural and safe, and holistic remedies, which homeopathy includes.

To give you a little perspective, there are around 300 people dying of drug reaction in America alone everyday which is equal to a Boeing crash. But it doesnt get as much attention, which can be pinned on the strong medical lobby.

So theres a gradual shift happening from allopathy to homeopathy not just in India but all over the world.

That being said, there are a lot of cynics and the lobbies that plant various stories. In spite of all this homeopathy is growing exponentially. The proof of the pudding is in eating it, so people should give it a try before denouncing it.

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Dr Batra's have launched a new genetics-based therapy that predicts future diseases - Gulf Today